ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.4609C>T (p.Arg1537Cys)

gnomAD frequency: 0.00016  dbSNP: rs376450994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697920 SCV000725103 benign not provided 2020-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001697920 SCV002401729 benign not provided 2024-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270825 SCV002555021 benign Hearing loss, X-linked 6 2022-03-15 criteria provided, single submitter clinical testing

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