ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6275C>T (p.Thr2092Ile)

gnomAD frequency: 0.00111  dbSNP: rs145868749
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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 RCV000216851 SCV000270046 likely benign not specified 2012-05-07 criteria provided, single submitter clinical testing Thr2092Ile in Exon 48 of CDH23: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (10/3322) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs145868749).
Invitae RCV000900248 SCV001044553 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000900248 SCV001796657 likely benign not provided 2020-07-31 criteria provided, single submitter clinical testing

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