Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076839 | SCV000108327 | no known pathogenicity | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | MAF >1% |
EGL Genetic Diagnostics, |
RCV000079106 | SCV000110975 | benign | not specified | 2018-03-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000130905 | SCV000185814 | benign | Hereditary cancer-predisposing syndrome | 2014-11-18 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Color | RCV000130905 | SCV000292095 | benign | Hereditary cancer-predisposing syndrome | 2014-12-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000079106 | SCV000304726 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000625384 | SCV000469720 | benign | Hereditary nonpolyposis colorectal cancer type 4 | 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. |
Department of Pathology and Laboratory Medicine, |
RCV000079106 | SCV000592942 | likely benign | not specified | 2015-01-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000079106 | SCV000604895 | benign | not specified | 2018-07-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000546054 | SCV000625577 | benign | Hereditary nonpolyposis colorectal neoplasms | 2019-12-31 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000625384 | SCV000745187 | benign | Hereditary nonpolyposis colorectal cancer type 4 | 2017-05-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000625384 | SCV000785289 | benign | Hereditary nonpolyposis colorectal cancer type 4 | 2017-07-07 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000079106 | SCV000257309 | benign | not specified | no assertion criteria provided | clinical testing |