ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3431-6A>T (rs377614198)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221627 SCV000270036 likely benign not specified 2015-05-27 criteria provided, single submitter clinical testing c.3431-6A>T in intron 29 of CDH23: This variant is not expected to have clinical significance because a thymine "T" at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing. It has be en identified in 5/9778 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs377614198).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727019 SCV000704979 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV000727019 SCV001066185 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272886 SCV001455309 likely benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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