ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4224C>T (p.Phe1408=)

gnomAD frequency: 0.00001  dbSNP: rs549672243
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ClinVar version:
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 RCV000773837 SCV000907537 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061080 SCV002493584 likely benign Ehlers-Danlos syndrome, type 4 2023-08-08 criteria provided, single submitter clinical testing

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