ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3102T>C (p.Arg1034=)

gnomAD frequency: 0.00001  dbSNP: rs1399453028
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001434539 SCV001637349 likely benign Ehlers-Danlos syndrome, type 4 2023-05-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001805930 SCV002052374 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-07-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001434539 SCV004829394 likely benign Ehlers-Danlos syndrome, type 4 2024-02-05 criteria provided, single submitter clinical testing

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