ClinVar Miner

Submissions for variant NM_005982.4(SIX1):c.465G>A (p.Arg155=)

gnomAD frequency: 0.00002  dbSNP: rs748903952
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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 RCV003768672 SCV001014255 likely benign Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 2023-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507522 SCV002808227 likely benign Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23; Branchiootorenal syndrome 1 2022-01-14 criteria provided, single submitter clinical testing

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