ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1887G>A (p.Thr629=)

dbSNP: rs201109911
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001409604 SCV001611635 likely benign not provided 2024-05-20 criteria provided, single submitter clinical testing
GeneDx RCV001409604 SCV001819087 likely benign not provided 2021-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831444 SCV002076400 likely benign Alport syndrome 2021-03-26 no assertion criteria provided clinical testing

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