ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6264C>A (p.Val2088=)

gnomAD frequency: 0.00001  dbSNP: rs727504898
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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 RCV000156277 SCV000205994 likely benign not specified 2013-12-19 criteria provided, single submitter clinical testing Val2088Val in exon 48 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
Invitae RCV001397687 SCV001599446 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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