ClinVar Miner

Submissions for variant NM_020365.5(EIF2B3):c.243C>T (p.Asp81=)

gnomAD frequency: 0.29252  dbSNP: rs11556200
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081999 SCV000113934 benign not specified 2013-11-06 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000081999 SCV000313481 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000259931 SCV000357864 benign Vanishing white matter disease 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.
Athena Diagnostics Inc RCV000711602 SCV000841983 benign not provided 2017-11-24 criteria provided, single submitter clinical testing
Invitae RCV000711602 SCV001725123 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081999 SCV000151089 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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