ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3220+15C>T

gnomAD frequency: 0.00338  dbSNP: rs79267977
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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 RCV000150287 SCV000197321 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 3220+15C>T in Intron 27 of CDH23: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 1.1% (39/3540) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS; dbSNP rs79267977).
Invitae RCV001520586 SCV001729719 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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