Submissions for variant NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=)

gnomAD frequency: 0.28054  dbSNP: rs1805164

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000396340	SCV000432440	benign	Wolcott-Rallison dysplasia	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.
Invitae	RCV001521773	SCV001731175	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001521773	SCV001848839	benign	not provided	2018-11-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000396340	SCV001875975	benign	Wolcott-Rallison dysplasia	2021-07-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116967	SCV000151085	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000396340	SCV000734231	benign	Wolcott-Rallison dysplasia		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000116967	SCV001932070	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116967	SCV001971116	benign	not specified		no assertion criteria provided	clinical testing