ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) (rs115346085)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000152665 SCV000169814 benign not specified 2013-03-20 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152665 SCV000202023 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg161Gln in Exon 05 of WFS1: This variant is not expected to have clinical sign ificance because it has been identified in 0.7% (28/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http://; dbSNP rs115346085).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152665 SCV000231088 likely benign not specified 2014-08-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756925 SCV000884912 benign not provided 2018-02-02 criteria provided, single submitter clinical testing
Invitae RCV000756925 SCV001013404 benign not provided 2019-03-02 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709886 SCV000840227 not provided Diabetes mellitus AND insipidus with optic atrophy AND deafness; WFS1-Related Disorders; Wolfram-like syndrome, autosomal dominant no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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