ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3215C>A (p.Ala1072Asp)

dbSNP: rs2132751525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375050 SCV001571716 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PS1_Supporting, PM2_Moderate, PM3_Supporting, PP3_Supporting
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815494 SCV005071864 likely pathogenic Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing

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