ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly)

dbSNP: rs2132740263
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814384 SCV001755223 likely pathogenic Ear malformation 2021-07-10 criteria provided, single submitter clinical testing
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002071934 SCV002320728 likely pathogenic Autosomal recessive nonsyndromic hearing loss 12 2022-03-14 criteria provided, single submitter clinical testing

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