ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4038T>C (p.Pro1346=)

gnomAD frequency: 0.00002  dbSNP: rs113753099
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721296 SCV000528250 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000634725 SCV000756064 likely benign Ehlers-Danlos syndrome, type 4 2023-09-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187372 SCV001354146 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-07-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000634725 SCV004825609 likely benign Ehlers-Danlos syndrome, type 4 2023-12-01 criteria provided, single submitter clinical testing

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