ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.825C>T (p.Ile275=)

gnomAD frequency: 0.00009  dbSNP: rs376436182
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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 RCV000155040 SCV000204724 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ile275Ile in Exon 09 of CDH23: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/3346 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS).
Invitae RCV000922650 SCV001068088 likely benign not provided 2023-12-12 criteria provided, single submitter clinical testing

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