Total submissions: 19
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000212352 | SCV000149771 | benign | not specified | 2014-07-17 | 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. |
Invitae | RCV000119120 | SCV000153833 | benign | Hereditary diffuse gastric adenocarcinoma | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000115862 | SCV000172889 | benign | Hereditary cancer-predisposing syndrome | 2014-12-03 | 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. |
Prevention |
RCV000212352 | SCV000310134 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Institute for Biomarker Research, |
RCV000115862 | SCV000576453 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-14 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000115862 | SCV000684468 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-09 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000212352 | SCV000860261 | benign | not specified | 2018-04-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000679551 | SCV001150947 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | CDH1: BS2 |
ARUP Laboratories, |
RCV000679551 | SCV001472271 | benign | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV000679551 | SCV002009848 | likely benign | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000115862 | SCV002529191 | benign | Hereditary cancer-predisposing syndrome | 2021-05-02 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000212352 | SCV002551753 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003149807 | SCV003837765 | likely benign | Breast and/or ovarian cancer | 2021-08-09 | criteria provided, single submitter | clinical testing | |
European Reference Network on Genetic Tumour Risk Syndromes |
RCV000119120 | SCV003926665 | benign | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | BA1; BS2 (PMID: 30311375) |
Mayo Clinic Laboratories, |
RCV000212352 | SCV000691815 | likely benign | not specified | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000679551 | SCV001741428 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000212352 | SCV001809005 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000212352 | SCV001921442 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000679551 | SCV001953605 | likely benign | not provided | no assertion criteria provided | clinical testing |