ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4488+7C>T (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, Partners HealthCare 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).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732201 SCV000860124 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
Invitae RCV000732201 SCV001103625 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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