ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) (rs34617762)

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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 RCV000250921 SCV000308715 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392601 SCV000373753 benign Spinal muscular atrophy, distal, autosomal recessive, 1 2018-01-13 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 RCV000250921 SCV000539347 likely 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: 2.1% of Finnish chromosomes in ExAC
Invitae RCV001079311 SCV000642323 benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2020-11-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712263 SCV000842709 benign not provided 2017-12-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282137 SCV001159118 benign none provided 2020-08-05 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173359 SCV001336447 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV000712263 SCV001889110 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000250921 SCV000929644 benign not specified no assertion criteria provided literature only

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