ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1129G>A (p.Asp377Asn)

dbSNP: rs779502033
Minimum review status: Collection method:
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ClinVar version:
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 RCV001375457 SCV001572082 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815499 SCV005072595 likely pathogenic Retinal dystrophy 2020-01-01 no assertion criteria provided clinical testing

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