ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9438G>A (p.Ala3146=)

gnomAD frequency: 0.00025  dbSNP: rs200572025
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Total submissions: 4
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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 RCV000039309 SCV000062993 likely benign not specified 2011-03-01 criteria provided, single submitter clinical testing Ala3146Ala in exon 67 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located ne ar a splice junction.
Invitae RCV000913824 SCV001058980 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000913824 SCV001792997 likely benign not provided 2018-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003944924 SCV004757780 likely benign CDH23-related condition 2019-11-21 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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