Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079128 | SCV000110997 | benign | not specified | 2016-05-19 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000079128 | SCV000194802 | benign | not specified | 2013-08-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000079128 | SCV000304817 | benign | not specified | 2018-03-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000372127 | SCV000412935 | 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, |
RCV000282600 | SCV000412936 | 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, |
RCV000337577 | SCV000412937 | likely benign | Central core myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000398661 | SCV000412938 | likely benign | Neuromuscular disease, congenital, with uniform type 1 fiber | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000079128 | SCV000522809 | benign | not specified | 2016-02-29 | 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. |
Laboratory for Molecular Medicine, |
RCV000079128 | SCV000711711 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | p.Ala4439Ala in exon 91 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 9.7% (18/186) of Finnish chromosomes from a broad population by the 1000 Genomes Project (http:// www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs113579185). |
Labcorp Genetics |
RCV001514072 | SCV001721821 | benign | RYR1-related disorder | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000119476 | SCV005208293 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Leiden Muscular Dystrophy |
RCV000119476 | SCV000154383 | not provided | not provided | no assertion provided | not provided | ||
Department of Pathology and Laboratory Medicine, |
RCV000119476 | SCV001553381 | uncertain significance | not provided | no assertion criteria provided | clinical testing | Allele frequency is common in at least one population database (frequency: 16.154% in ExAC) based on the frequency threshold of 2.223% for this gene. Variant was observed in a homozygous state in population databases more than expected for disease. A synonymous variant not located in a splice region. | |
Laboratory of Diagnostic Genome Analysis, |
RCV000119476 | SCV002035375 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000079128 | SCV002037366 | benign | not specified | no assertion criteria provided | clinical testing |