ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu)

gnomAD frequency: 0.00001  dbSNP: rs767345324
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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 RCV002480880 SCV002780660 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2022-03-18 criteria provided, single submitter clinical testing
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264699 SCV001442882 uncertain significance Neurodevelopmental abnormality 2020-04-03 no assertion criteria provided clinical testing

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