ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2187A>G (p.Gly729=)

gnomAD frequency: 0.00002  dbSNP: rs772997837
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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 RCV001188830 SCV001355975 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-03-17 criteria provided, single submitter clinical testing
Invitae RCV001502266 SCV001707094 likely benign Ehlers-Danlos syndrome, type 4 2023-08-24 criteria provided, single submitter clinical testing

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