Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003764834 | SCV000166034 | benign | Familial adenomatous polyposis 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000131786 | SCV000186835 | benign | Hereditary cancer-predisposing syndrome | 2014-12-09 | 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. |
Gene |
RCV000589855 | SCV000209524 | likely benign | not provided | 2020-10-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24728327, 20233475, 25637381, 21859464, 18199528, 26416840, 27153395, 26332594, 23085758) |
Laboratory for Molecular Medicine, |
RCV000120015 | SCV000538299 | uncertain significance | not specified | 2017-01-24 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Classified within the last year. Didn't undergo full assessment. Seen in 7 papers, including in unaffected individuals and homozygous in one patient. MaxMAF .132% (but only 758 chrs). AA not conserved - Val seen in hamster. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589855 | SCV000694048 | benign | not provided | 2016-02-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000122777 | SCV000838113 | likely benign | Familial adenomatous polyposis 1 | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000131786 | SCV000902669 | benign | Hereditary cancer-predisposing syndrome | 2016-07-20 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000589855 | SCV001133335 | likely benign | not provided | 2019-07-16 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000131786 | SCV002531971 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-27 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000120015 | SCV002760356 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing | |
Institute for Biomarker Research, |
RCV000131786 | SCV004228135 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-26 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000120015 | SCV000084145 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
CSER _CC_NCGL, |
RCV000148358 | SCV000190048 | likely benign | Colorectal adenoma | 2014-06-01 | no assertion criteria provided | research | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000589855 | SCV001953409 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000589855 | SCV001970607 | likely benign | not provided | no assertion criteria provided | clinical testing |