Invitae

GenCC Ref: GENCC:000106

Invitae

This page is a summary of submissions provided by Invitae. Click here to be notified about GenCC updates.

Invitae is a CLIA-certified fee-for-service clinical testing laboratory.


Website
Personnel
Audrey O'Neill, Coordinator
Phone: 800-436-3037
Email: audrey.oneill@invitae.com

Assertion Criteria

Submissions

5528 total number of submissions
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immunodeficiency 91 and hyperinflammation
Submitted as: OMIM:619644
AR
12/21/2021
Evaluated
11/30/2023
Submitted
acromelic frontonasal dysostosis
Submitted as: OMIM:603671
AD
12/14/2018
Evaluated
11/30/2023
Submitted
neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
Submitted as: OMIM:617865
AD
08/17/2021
Evaluated
11/30/2023
Submitted
ovarian dysgenesis 10
Submitted as: OMIM:619834
AR
10/07/2022
Evaluated
11/30/2023
Submitted
retinitis pigmentosa 14
Submitted as: OMIM:600132
AR
02/16/2023
Evaluated
11/30/2023
Submitted
mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
Submitted as: OMIM:620358
AD
07/17/2023
Evaluated
11/30/2023
Submitted
TWIST1-related craniosynostosis
Submitted as: OMIM:123100
AD
10/21/2022
Evaluated
11/30/2023
Submitted
Saethre-Chotzen syndrome
Submitted as: OMIM:101400
AD
08/19/2021
Evaluated
11/30/2023
Submitted
Barber-Say syndrome
Submitted as: OMIM:209885
AD
04/19/2021
Evaluated
11/30/2023
Submitted
focal facial dermal dysplasia type III
Submitted as: OMIM:227260
AR
12/14/2018
Evaluated
11/30/2023
Submitted
mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Submitted as: OMIM:271245
AR
04/09/2020
Evaluated
11/30/2023
Submitted
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Submitted as: OMIM:609286
AD
03/27/2020
Evaluated
11/30/2023
Submitted
meckel syndrome 14
Submitted as: OMIM:619879
AR
07/11/2022
Evaluated
11/30/2023
Submitted
mitochondrial DNA depletion syndrome 1
Submitted as: OMIM:603041
AR
04/15/2022
Evaluated
11/30/2023
Submitted
oculocutaneous albinism type 1A
Submitted as: OMIM:203100
AR
04/19/2022
Evaluated
11/30/2023
Submitted
polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Submitted as: OMIM:221770
AR
03/10/2020
Evaluated
11/30/2023
Submitted
oculocutaneous albinism type 3
Submitted as: OMIM:203290
AR
04/09/2020
Evaluated
11/30/2023
Submitted
ACCES syndrome
Submitted as: OMIM:619959
AD
05/24/2023
Evaluated
11/30/2023
Submitted
developmental and epileptic encephalopathy, 44
Submitted as: OMIM:617132
AR
01/13/2022
Evaluated
11/30/2023
Submitted
spastic paraplegia 80, autosomal dominant
Submitted as: OMIM:618418
AD
04/16/2021
Evaluated
11/30/2023
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

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