ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.945+12G>A

gnomAD frequency: 0.00022  dbSNP: rs368487424
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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 RCV000155041 SCV000204725 likely benign not specified 2016-09-22 criteria provided, single submitter clinical testing c.945+12G>A in intron 10 of CDH23: This variant is not expected to have clinical significance because it is not located within the conserved region of the splic e consensus sequence and has been identified in 8/8920 African chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs36 8487424).
Invitae RCV001492336 SCV001696945 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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