ClinVar Miner

Submissions for variant NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys)

gnomAD frequency: 0.22211  dbSNP: rs867529
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000322169 SCV000432453 benign Wolcott-Rallison dysplasia 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.
Mendelics RCV000322169 SCV001135914 benign Wolcott-Rallison dysplasia 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001516846 SCV001725203 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000322169 SCV001875980 benign Wolcott-Rallison dysplasia 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001516846 SCV001900447 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116969 SCV000151087 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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