ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2067G>A (p.Thr689=)

gnomAD frequency: 0.00002  dbSNP: rs876657437
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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 RCV000214228 SCV000270031 likely benign not specified 2014-12-24 criteria provided, single submitter clinical testing p.Thr689Thr in exon 20 of CDH23: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence.
Invitae RCV000944551 SCV001090522 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing

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