ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2865C>T (p.Arg955=)

gnomAD frequency: 0.00105  dbSNP: rs79636933
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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 RCV000155354 SCV000205041 likely benign not specified 2012-05-07 criteria provided, single submitter clinical testing p.Arg955Arg in Exon 25 of CDH23: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.2% (6/3478) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs79636933).
Labcorp Genetics (formerly Invitae), Labcorp RCV000965140 SCV001112400 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000965140 SCV001987846 uncertain significance not provided 2021-10-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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