Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041408 | SCV000065103 | benign | not specified | 2012-07-03 | criteria provided, single submitter | clinical testing | 1.5% (59/3856) of Afr Amer chrom from ESP |
Illumina Laboratory Services, |
RCV000379606 | SCV000455491 | likely benign | Limb-girdle muscular dystrophy, recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000278176 | SCV000455492 | benign | Qualitative or quantitative defects of delta-sarcoglycan | 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. |
Labcorp Genetics |
RCV001083717 | SCV000562853 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2F | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313734 | SCV000739909 | likely benign | Inborn genetic diseases | 2022-05-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
CHEO Genetics Diagnostic Laboratory, |
RCV000770207 | SCV000901637 | benign | Cardiomyopathy | 2016-11-09 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000473741 | SCV001145591 | benign | not provided | 2019-06-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000041408 | SCV001363521 | benign | not specified | 2019-08-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000473741 | SCV001943907 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477129 | SCV002798024 | likely benign | Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F | 2022-02-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001083717 | SCV003931863 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2F | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003233094 | SCV003931864 | likely benign | Dilated cardiomyopathy 1L | 2023-02-08 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000473741 | SCV004562808 | benign | not provided | 2023-08-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003924987 | SCV004740773 | benign | SGCD-related disorder | 2019-05-20 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Breakthrough Genomics, |
RCV000473741 | SCV005220294 | likely benign | not provided | criteria provided, single submitter | not provided |