ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4425C>T (p.Ser1475=)

gnomAD frequency: 0.00001  dbSNP: rs554295504
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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 RCV000825125 SCV000966383 likely benign not specified 2018-06-27 criteria provided, single submitter clinical testing The p.Ser1475Ser variant in CDH23 is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. It has been identified in 4/126132 European chromosomes by the Genome Agg regation Database (gnomAD, http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BP4, BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV001503482 SCV001708337 likely benign not provided 2023-06-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830828 SCV002087401 likely benign Usher syndrome type 1 2020-12-14 no assertion criteria provided clinical testing

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