ClinVar Miner

Submissions for variant NM_005982.4(SIX1):c.690G>C (p.Ser230=)

gnomAD frequency: 0.00005  dbSNP: rs571997198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000584896 SCV000692791 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530834 SCV003254868 likely benign Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 2022-07-08 criteria provided, single submitter clinical testing

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