ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.30G>A (p.Thr10=)

gnomAD frequency: 0.00067  dbSNP: rs35535012
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145342 SCV000192421 uncertain significance Myopathy, centronuclear, 2 2013-03-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724179 SCV000224691 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000145342 SCV000416313 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000724179 SCV000527056 likely benign not provided 2020-11-16 criteria provided, single submitter clinical testing
Invitae RCV000145342 SCV000634514 benign Myopathy, centronuclear, 2 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724179 SCV001500225 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing BIN1: BP4, BP7

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