ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.873C>A (p.Gly291=)

dbSNP: rs138569287
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534967 SCV000631676 likely benign Ehlers-Danlos syndrome, type 4 2017-06-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178159 SCV001342534 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000534967 SCV004831389 likely benign Ehlers-Danlos syndrome, type 4 2023-06-08 criteria provided, single submitter clinical testing

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