ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) (rs2236654)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247088 SCV000308720 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000247088 SCV000333321 benign not specified 2015-07-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000576600 SCV000373789 benign Spinal muscular atrophy, distal, autosomal recessive, 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000247088 SCV000539345 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 19% of total chromosomes in ExAC
Athena Diagnostics Inc RCV000576600 SCV000677348 benign Spinal muscular atrophy, distal, autosomal recessive, 1 2017-04-14 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173354 SCV001336442 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000576600 SCV000733102 benign Spinal muscular atrophy, distal, autosomal recessive, 1 no assertion criteria provided clinical testing

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