ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2854G>A (p.Glu952Lys)

gnomAD frequency: 0.00009  dbSNP: rs370554545
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766714 SCV000616673 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30245029, 23525850)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000520188 SCV000731772 likely benign not specified 2017-07-13 criteria provided, single submitter clinical testing p.Glu952Lys in exon 25 of CDH23: This variant is not expected to have clinical s ignificance because it has been identified in 0.34% (116/34368) of Latino chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs370554545).
Invitae RCV000766714 SCV001051426 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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