ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4210-13C>T

gnomAD frequency: 0.00004  dbSNP: rs377079875
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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 RCV000215352 SCV000270037 likely benign not specified 2015-10-20 criteria provided, single submitter clinical testing c.4210-13C>T in intron 34 of CDH23: This variant is not expected to have clinica l significance because a C>T change at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing. It has be en identified in 4/8622 of East Asian chromosomes by the Exome Aggregation Conso rtium (ExAC, http://exac.broadinstitute.org; dbSNP rs377079875).
Invitae RCV001493981 SCV001698628 likely benign not provided 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001493981 SCV002028424 likely benign not provided 2021-05-25 criteria provided, single submitter clinical testing

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