ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.486T>C (p.Thr162=)

gnomAD frequency: 0.29063  dbSNP: rs1060743
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145343 SCV000192422 likely benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000145343 SCV000268797 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr162Thr in exon 6 of BIN1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 29.0% (2498/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1060743).
PreventionGenetics, part of Exact Sciences RCV000145343 SCV000315936 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349850 SCV000416309 benign Myopathy, centronuclear, 2 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.
GeneDx RCV000145343 SCV000519193 benign not specified 2016-01-05 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.
Invitae RCV000349850 SCV001729452 benign Myopathy, centronuclear, 2 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000349850 SCV001775224 benign Myopathy, centronuclear, 2 2021-07-14 criteria provided, single submitter clinical testing

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