ClinVar Miner

Submissions for variant NM_005982.4(SIX1):c.385T>C (p.Tyr129His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797088 SCV005417486 likely pathogenic Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 criteria provided, single submitter clinical testing PM2_Supporting+PM5+PP3+PS4_Supporting+PP1_Moderate

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