ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9511-12C>T

gnomAD frequency: 0.00002  dbSNP: rs397517366
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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 RCV000039311 SCV000062995 likely benign not specified 2012-05-29 criteria provided, single submitter clinical testing 9511-12C>T in intron 67 of CDH23: This variant is not expected to have clinical significance because it does not cause the splice site sequence to diverge from consensus.
Invitae RCV002054750 SCV002409832 likely benign not provided 2023-08-17 criteria provided, single submitter clinical testing

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