Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000212806 | SCV000170855 | benign | not specified | 2014-02-12 | 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 | RCV000130422 | SCV000185285 | likely benign | Hereditary cancer-predisposing syndrome | 2018-07-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Labcorp Genetics |
RCV001030291 | SCV000252861 | benign | Familial cancer of breast | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000212806 | SCV000596213 | benign | not specified | 2019-08-15 | criteria provided, single submitter | clinical testing | |
Institute for Biomarker Research, |
RCV000130422 | SCV000679737 | likely benign | Hereditary cancer-predisposing syndrome | 2017-07-12 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000130422 | SCV000685935 | benign | Hereditary cancer-predisposing syndrome | 2015-10-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000212806 | SCV000807086 | benign | not specified | 2017-09-27 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759187 | SCV000888366 | benign | not provided | 2022-07-28 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000130422 | SCV002530677 | benign | Hereditary cancer-predisposing syndrome | 2020-12-28 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000212806 | SCV002551664 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001030291 | SCV001193201 | likely benign | Familial cancer of breast | 2019-05-13 | no assertion criteria provided | curation | Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz. |
Genome Diagnostics Laboratory, |
RCV000212806 | SCV001808006 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics Laboratory, |
RCV000759187 | SCV001905881 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000759187 | SCV001956810 | likely benign | not provided | no assertion criteria provided | clinical testing |