ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8012G>A (p.Gly2671Asp)

gnomAD frequency: 0.00001  dbSNP: rs779222449
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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 Rare Diseases, West China Hospital, Sichuan University RCV001822941 SCV005687231 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12 2025-01-09 criteria provided, single submitter research PM3_Strong;PM2_Supporting;PP3
WangQJ Lab, Chinese People's Liberation Army General Hospital RCV001822941 SCV001762490 uncertain significance Autosomal recessive nonsyndromic hearing loss 12 2021-07-01 no assertion criteria provided clinical testing

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