ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) (rs10896380)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244835 SCV000308734 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000576508 SCV000373767 benign Spinal muscular atrophy, distal, autosomal recessive, 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000244835 SCV000539343 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: 18% of total chromosomes in ExAC
Athena Diagnostics Inc RCV000576508 SCV000677353 benign Spinal muscular atrophy, distal, autosomal recessive, 1 2017-04-14 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173352 SCV001336440 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001514629 SCV001722523 benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001636772 SCV001852044 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000576508 SCV000733099 benign Spinal muscular atrophy, distal, autosomal recessive, 1 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000244835 SCV001921216 benign not specified no assertion criteria provided clinical testing

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