ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9087G>A (p.Gln3029=)

gnomAD frequency: 0.00030  dbSNP: rs376098894
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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 RCV000155056 SCV000204740 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gln3029Gln in Exon 63 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.1% (2/3444) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Labcorp Genetics (formerly Invitae), Labcorp RCV000942342 SCV001088264 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000942342 SCV005079616 uncertain significance not provided 2024-04-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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