Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000311224 | SCV000432444 | likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Center for Pediatric Genomic Medicine, |
RCV000423642 | SCV000510910 | uncertain significance | not provided | 2016-08-31 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Eurofins Ntd Llc |
RCV000423642 | SCV000708003 | uncertain significance | not provided | 2017-06-02 | criteria provided, single submitter | clinical testing | |
Personalized Diabetes Medicine Program, |
RCV000664080 | SCV000787532 | benign | Monogenic diabetes | 2019-01-18 | criteria provided, single submitter | research | ACMG criteria: BA1 (0.5% in EurNF in gnomAD), BS2 (1 homozygotes in gnomAD)= benign (REVEL 0.384 + PP3/4 predictors) + BP4/5 predictors= conflicting evidence, not using) |
Fulgent Genetics, |
RCV000311224 | SCV000895509 | uncertain significance | Wolcott-Rallison dysplasia | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000423642 | SCV001101240 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821019 | SCV002070965 | uncertain significance | not specified | 2019-11-21 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002278521 | SCV002566498 | uncertain significance | Connective tissue disorder | 2020-03-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000423642 | SCV004033750 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | EIF2AK3: BP4 |
ARUP Laboratories, |
RCV000311224 | SCV004564127 | uncertain significance | Wolcott-Rallison dysplasia | 2023-09-08 | criteria provided, single submitter | clinical testing | The EIF2AK3 c.1697A>T; p.Asp566Val variant (rs55791823), to our knowledge, is not reported in the medical literature in individuals with Wolcott-Rallison syndrome. This variant is reported in ClinVar (Variation ID: 337412) and is found in the general population with an overall allele frequency of 0.26% (730/282,242 alleles, including 1 homozygote) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.384). Due to limited information, the clinical significance of this variant is uncertain at this time. |