ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1428G>T (p.Gly476=)

gnomAD frequency: 0.00001  dbSNP: rs397517306
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Total submissions: 2
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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 RCV000039101 SCV000062783 likely benign not specified 2014-08-11 criteria provided, single submitter clinical testing Gly476Gly in exon 14A 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 wi thin the splice consensus sequence.
Invitae RCV001307015 SCV001496408 likely benign not provided 2023-10-13 criteria provided, single submitter clinical testing

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