ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1590T>C (p.Pro530=)

dbSNP: rs1688293277
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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 RCV001183381 SCV001349097 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-07-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008375 SCV004824670 likely benign Ehlers-Danlos syndrome, type 4 2023-05-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV005243480 SCV005894461 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing COL3A1: BP4, BP7

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