ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1866C>T (p.Ser622=)

gnomAD frequency: 0.00003  dbSNP: rs397517312
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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 RCV000039117 SCV000062799 likely benign not specified 2013-01-10 criteria provided, single submitter clinical testing Ser622Ser in exon 18 of CDH23: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence.
Invitae RCV000885624 SCV001029085 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing

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