ClinVar Miner

Submissions for variant NM_005982.4(SIX1):c.1A>C (p.Met1Leu)

dbSNP: rs1895013419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262831 SCV001440844 uncertain significance Branchiootic syndrome 3 2019-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003992483 SCV004812168 benign Autosomal dominant nonsyndromic hearing loss 23 2020-06-26 criteria provided, single submitter clinical testing Criteria applied: BS1, BS2

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