ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) (rs373552185)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724324 SCV000233129 uncertain significance not provided 2015-01-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218629 SCV000270107 likely benign not specified 2016-01-07 criteria provided, single submitter clinical testing p.Val735Ile in exon 9 of DFNB31: This variant is not expected to have clinical significance because it has been identified in 0.3% (53/16512) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs373552185).
Invitae RCV000724324 SCV001039541 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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