ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2691C>T (p.Ala897=)

dbSNP: rs1452389958
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Total submissions: 2
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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 RCV000614381 SCV000731557 likely benign not specified 2017-04-14 criteria provided, single submitter clinical testing p.Ala897Ala in exon 24 of CDH23: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/30782 South Asi an chromosomes and 1/15286 African chromosomes by the genome Aggregation Databas e (gnomAD, http://gnomad.broadinstitute.org).
Invitae RCV001460155 SCV001664018 likely benign not provided 2023-10-26 criteria provided, single submitter clinical testing

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