ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1335A>G (p.Pro445=)

dbSNP: rs1193108024
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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 RCV000553654 SCV000631623 likely benign Ehlers-Danlos syndrome, type 4 2024-11-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528187 SCV004361465 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000553654 SCV004827029 likely benign Ehlers-Danlos syndrome, type 4 2022-11-28 criteria provided, single submitter clinical testing

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