Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000284183 | SCV000334852 | benign | not specified | 2015-09-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000386817 | SCV000449663 | benign | Qualitative or quantitative defects of beta-sarcoglycan | 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. |
Illumina Laboratory Services, |
RCV000295248 | SCV000449664 | uncertain significance | Limb-girdle muscular dystrophy, recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000284183 | SCV000615221 | likely benign | not specified | 2016-09-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000534489 | SCV000642386 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000284183 | SCV000714385 | benign | not specified | 2017-12-19 | 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. |
Center for Advanced Laboratory Medicine, |
RCV000852968 | SCV000995717 | likely benign | Hypertrophic cardiomyopathy | 2017-07-06 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000534489 | SCV001737267 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000534489 | SCV002082974 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2020-01-13 | no assertion criteria provided | clinical testing |