Total submissions: 18
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147438 | SCV000194853 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000147438 | SCV000203456 | benign | not specified | 2014-02-17 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000147438 | SCV000269780 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | p.His2420His in exon 45 of RYR1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 3.3% (287/8600) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs12973632). |
Prevention |
RCV000147438 | SCV000305001 | benign | not specified | 2018-04-10 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000287054 | SCV000412415 | benign | Neuromuscular disease, congenital, with uniform type 1 fiber | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000339275 | SCV000412416 | benign | Malignant hyperthermia, susceptibility to, 1 | 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. |
Illumina Laboratory Services, |
RCV000403377 | SCV000412417 | benign | Congenital multicore myopathy with external ophthalmoplegia | 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. |
Illumina Laboratory Services, |
RCV000290153 | SCV000412418 | benign | Central core myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000147438 | SCV000515934 | benign | not specified | 2015-06-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000527440 | SCV000660022 | benign | RYR1-related disorder | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000119692 | SCV001145295 | benign | not provided | 2019-06-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002483210 | SCV002803151 | benign | Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome | 2021-08-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000339275 | SCV004358122 | benign | Malignant hyperthermia, susceptibility to, 1 | 2019-03-29 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000119692 | SCV005308638 | benign | not provided | criteria provided, single submitter | not provided | ||
Leiden Muscular Dystrophy |
RCV000119692 | SCV000154599 | not provided | not provided | no assertion provided | not provided | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000119692 | SCV001797779 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000147438 | SCV001921120 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000147438 | SCV001958509 | benign | not specified | no assertion criteria provided | clinical testing |