ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser)

dbSNP: rs397517356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001279070 SCV001466131 uncertain significance Usher syndrome type 1 2020-08-13 no assertion criteria provided clinical testing
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital RCV001823192 SCV001763657 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12 no assertion criteria provided case-control

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