ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2781C>T (p.Tyr927=) (rs375102725)

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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, Partners HealthCare Personalized Medicine RCV000039133 SCV000062815 likely benign not specified 2012-03-26 criteria provided, single submitter clinical testing Tyr927Tyr in exon 25 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 0.2% (7/3548) of Afri can American chromosomes in a broad population by the NHLBI Exome sequencing pro ject (
Invitae RCV000905728 SCV001050322 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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