ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3207T>G (p.Pro1069=)

dbSNP: rs774148328
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001178261 SCV001342651 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-08-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326548 SCV004033844 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing COL3A1: BP4, BP7
All of Us Research Program, National Institutes of Health RCV004006457 SCV004829438 likely benign Ehlers-Danlos syndrome, type 4 2024-02-05 criteria provided, single submitter clinical testing

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