ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.114C>T (p.Ser38=)

gnomAD frequency: 0.00001  dbSNP: rs377506539
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001659445 SCV001881726 benign not provided 2019-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001659445 SCV002371058 benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271285 SCV002553470 benign Hearing loss, X-linked 6 2022-03-15 criteria provided, single submitter clinical testing

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