ClinVar Miner

Submissions for variant NM_005982.4(SIX1):c.460A>T (p.Lys154Ter)

dbSNP: rs1060499595
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477918 SCV000536842 likely pathogenic Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 2015-11-16 no assertion criteria provided research

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