Total submissions: 20
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000075440 | SCV000106437 | likely benign | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | MAF 1% in African population |
Invitae | RCV001083015 | SCV000166246 | benign | Hereditary nonpolyposis colorectal neoplasms | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000121364 | SCV000170300 | benign | not specified | 2013-12-20 | 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. |
Ambry Genetics | RCV000130675 | SCV000185561 | benign | Hereditary cancer-predisposing syndrome | 2014-11-18 | 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. |
EGL Genetic Diagnostics, |
RCV000121364 | SCV000226564 | benign | not specified | 2015-05-01 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000121364 | SCV000592430 | benign | not specified | 2017-07-12 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000121364 | SCV000595805 | likely benign | not specified | 2017-05-30 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000121364 | SCV000601374 | likely benign | not specified | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Color | RCV000130675 | SCV000684785 | benign | Hereditary cancer-predisposing syndrome | 2015-10-15 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000659875 | SCV000781762 | likely benign | Lynch syndrome II | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000121364 | SCV000805960 | benign | not specified | 2017-12-01 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000034543 | SCV000889394 | benign | not provided | 2018-05-24 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000659875 | SCV001136430 | benign | Lynch syndrome II | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000659875 | SCV001305814 | likely benign | Lynch syndrome II | 2019-04-23 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
ARUP Laboratories, |
RCV000034543 | SCV001433781 | likely benign | not provided | 2017-10-06 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034543 | SCV000043328 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |
ITMI | RCV000121364 | SCV000085545 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
CSER _CC_NCGL, |
RCV000148615 | SCV000190330 | likely benign | Endometrial carcinoma | 2014-06-01 | no assertion criteria provided | research | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000121364 | SCV000257076 | uncertain significance | not specified | no assertion criteria provided | clinical testing | ||
True Health Diagnostics | RCV000130675 | SCV000788021 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-10 | no assertion criteria provided | clinical testing |