ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.79G>A (p.Val27Ile) (rs2274084)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037872 SCV000061534 benign not specified 2011-06-09 criteria provided, single submitter clinical testing Val27Ile in exon 2 of GJB2: This variant is benign based on its high frequency i n the general population (rs2274084) with a homozygous frequency of 12-20% in th e Asian population.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037872 SCV000112278 benign not specified 2014-11-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000037872 SCV000193183 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037872 SCV000309918 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266159 SCV000383045 benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000037872 SCV000513146 benign not specified 2015-12-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000029942 SCV000599728 benign Deafness, autosomal recessive 1A 2017-05-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000037872 SCV000603815 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576408 SCV000677264 benign Deafness, autosomal recessive 1A; Deafness, autosomal dominant 3a 2017-04-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029942 SCV000052597 benign Deafness, autosomal recessive 1A 2015-03-31 no assertion criteria provided clinical testing

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