ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.507C>G (p.Leu169=)

dbSNP: rs142437505
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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 RCV001177660 SCV001341909 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-11-15 criteria provided, single submitter clinical testing
Invitae RCV002558856 SCV003496995 likely benign Ehlers-Danlos syndrome, type 4 2023-10-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003142106 SCV003828135 uncertain significance not provided 2021-01-18 criteria provided, single submitter clinical testing

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