Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076810 | SCV000108296 | no known pathogenicity | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | MAF >1% |
EGL Genetic Diagnostics, |
RCV000079104 | SCV000110973 | benign | not specified | 2018-03-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000130906 | SCV000185815 | benign | Hereditary cancer-predisposing syndrome | 2014-07-31 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
Color | RCV000130906 | SCV000292094 | benign | Hereditary cancer-predisposing syndrome | 2014-11-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000079104 | SCV000304719 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000625385 | SCV000469732 | benign | Hereditary nonpolyposis colorectal cancer type 4 | 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. |
Department of Pathology and Laboratory Medicine, |
RCV000079104 | SCV000592935 | benign | not specified | 2015-01-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000079104 | SCV000604896 | benign | not specified | 2018-07-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081087 | SCV000625528 | benign | Hereditary nonpolyposis colorectal neoplasms | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000079104 | SCV000711442 | benign | not specified | 2017-04-20 | criteria provided, single submitter | clinical testing | p.Thr485Lys in exon 11 of PMS2: This variant is not expected to have clinical si gnificance because it has been identified in 35% (3077/8632) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs1805323). |
DNA and Cytogenetics Diagnostics Unit, |
RCV000625385 | SCV000745192 | benign | Hereditary nonpolyposis colorectal cancer type 4 | 2017-05-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000625385 | SCV000785345 | benign | Hereditary nonpolyposis colorectal cancer type 4 | 2017-07-07 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034616 | SCV000043428 | no known pathogenicity | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Benign. |
ITMI | RCV000079104 | SCV000086044 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000079104 | SCV000691973 | benign | not specified | no assertion criteria provided | clinical testing |