ClinVar Miner

Submissions for variant NM_005982.4(SIX1):c.816C>T (p.Leu272=)

gnomAD frequency: 0.00004  dbSNP: rs750377629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003768864 SCV001074688 likely benign Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 2022-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505378 SCV002805721 likely benign Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23; Branchiootorenal syndrome 1 2021-11-02 criteria provided, single submitter clinical testing

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