ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)

gnomAD frequency: 0.00006  dbSNP: rs202147495
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001577123 SCV001804454 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002493488 SCV002779991 uncertain significance Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV001577123 SCV003522559 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279072 SCV001466133 uncertain significance Usher syndrome type 1 2020-04-17 no assertion criteria provided clinical testing

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