ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6795C>T (p.Ser2265=)

gnomAD frequency: 0.00001  dbSNP: rs751113848
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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 RCV000216916 SCV000270049 likely benign not specified 2015-04-20 criteria provided, single submitter clinical testing p.Ser2265Ser in exon 49 of CDH23: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/10078 Latino c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org).
Invitae RCV001445427 SCV001648458 likely benign not provided 2023-10-04 criteria provided, single submitter clinical testing

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