Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078403 | SCV000110249 | benign | not specified | 2012-08-16 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000078403 | SCV000152724 | benign | not specified | 2013-08-15 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000078403 | SCV000269822 | benign | not specified | 2014-11-26 | criteria provided, single submitter | clinical testing | p.Asp76Asp in exon 3 of SGCG: This variant is not expected to have clinical sign ificance because it has been identified in 24% (1040/4406) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs1800350). |
Prevention |
RCV000078403 | SCV000303089 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000355948 | SCV000383244 | likely benign | Limb-girdle muscular dystrophy, recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000393920 | SCV000383245 | benign | Sarcoglycanopathy | 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. |
Gene |
RCV000078403 | SCV000519619 | benign | not specified | 2016-02-02 | 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. |
Athena Diagnostics | RCV000710214 | SCV000677484 | benign | not provided | 2017-04-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001272916 | SCV001731244 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2C | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Pars Genome Lab | RCV001272916 | SCV001750000 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2C | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000710214 | SCV005219323 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Natera, |
RCV001272916 | SCV001455345 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2C | 2020-09-16 | no assertion criteria provided | clinical testing |