ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.2112G>T (p.Leu704=) (rs535492772)

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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 RCV000724270 SCV000233130 uncertain significance not provided 2014-12-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000223262 SCV000270105 likely benign not specified 2015-01-29 criteria provided, single submitter clinical testing p.Leu704Leu in exon 9 of DFNB31: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. This variant has been identified in 6/1156 2 of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b}.
Invitae RCV000724270 SCV001635080 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing

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