ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7660+13C>T

gnomAD frequency: 0.00095  dbSNP: rs374011250
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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 RCV000150320 SCV000197408 benign not specified 2016-10-25 criteria provided, single submitter clinical testing 7660+13C>T in Intron 54 of CDH23: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 0.4% (40/9782) of African chromosomes by the Ex ome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs374011 250).
Labcorp Genetics (formerly Invitae), Labcorp RCV002055959 SCV002367340 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV002055959 SCV002522055 likely benign not provided 2021-11-24 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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