ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9177G>A (p.Pro3059=)

gnomAD frequency: 0.00001  dbSNP: rs371609236
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039306 SCV000062990 likely benign not specified 2010-04-23 criteria provided, single submitter clinical testing Pro3059Pro in exon 63 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located ne ar a splice junction.
Invitae RCV001046961 SCV001210888 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001046961 SCV001812058 likely benign not provided 2021-07-08 criteria provided, single submitter clinical testing

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