Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117289 | SCV000151464 | benign | not specified | 2013-08-15 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000117289 | SCV000224298 | benign | not specified | 2016-08-24 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000117289 | SCV000269175 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | p.Ser19Arg in exon 1 of ISPD: This variant is not expected to have clinical sign ificance because it has been identified in 39.9% (71/178) of English and Scottis h chromosomes from a broad population by the 1000 Genomes Project (http://www.nc bi.nlm.nih.gov/projects/SNP; dbSNP rs7782939). |
Prevention |
RCV000117289 | SCV000306593 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000347035 | SCV000468025 | benign | Congenital Muscular Dystrophy, alpha-dystroglycan related | 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. |
Diagnostic Laboratory, |
RCV000600664 | SCV000734548 | benign | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | no assertion criteria provided | clinical testing |