ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)

gnomAD frequency: 0.00003  dbSNP: rs1344509500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493408 SCV002792209 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-09-21 criteria provided, single submitter clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV000770813 SCV000902299 pathogenic Autosomal recessive nonsyndromic hearing loss 12 2019-02-26 no assertion criteria provided case-control

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