ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5025C>T (p.Val1675=)

gnomAD frequency: 0.00004  dbSNP: rs775157930
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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 RCV000214732 SCV000270040 likely benign not specified 2015-06-16 criteria provided, single submitter clinical testing p.Val1675Val in exon 39 of CDH23: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/66590 of Europ ean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org).
Invitae RCV000976408 SCV001124309 likely benign not provided 2023-12-18 criteria provided, single submitter clinical testing

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