ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.567T>C (p.Gly189=)

gnomAD frequency: 0.00001  dbSNP: rs946410316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001526168 SCV001736465 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071887 SCV002379083 likely benign Ehlers-Danlos syndrome, type 4 2021-08-13 criteria provided, single submitter clinical testing

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