ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1227G>A (p.Ala409=) (rs371212430)

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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 RCV000155042 SCV000204726 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala409Ala in Exon 13 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 1/3360 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS).
Invitae RCV000896264 SCV001040348 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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