ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4488+7C>T

gnomAD frequency: 0.00092  dbSNP: rs374215303
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Total submissions: 3
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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 RCV000150294 SCV000197345 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing c.4488+7C>T in Intron 36 of CDH23: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and has been identified in 0.3% (9/3262) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS).
Eurofins Ntd Llc (ga) RCV000732201 SCV000860124 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000732201 SCV001103625 benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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