ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4947G>A (p.Thr1649=)

gnomAD frequency: 0.00047  dbSNP: rs373046094
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Total submissions: 5
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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 RCV000221351 SCV000270039 likely benign not specified 2016-03-22 criteria provided, single submitter clinical testing p.Thr1649Thr in Exon 39 of CDH23: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.2% (121/ 65676) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs373046094).
Invitae RCV000937626 SCV001083416 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000937626 SCV001791389 likely benign not provided 2020-08-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000937626 SCV004126741 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing CDH23: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003937819 SCV004754542 likely benign CDH23-related condition 2019-07-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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