Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000419649 | SCV000516028 | likely benign | not specified | 2017-05-18 | 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. |
Labcorp Genetics |
RCV000114668 | SCV000561142 | likely benign | Familial cancer of breast | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566337 | SCV000666847 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-11 | 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. |
Color Diagnostics, |
RCV000566337 | SCV000686080 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-23 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000114668 | SCV000786204 | likely benign | Familial cancer of breast | 2018-03-21 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000858848 | SCV001134560 | likely benign | not provided | 2018-09-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000858848 | SCV001150872 | likely benign | not provided | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001118310 | SCV001276583 | uncertain significance | Fanconi anemia complementation group N | 2017-04-27 | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
CHEO Genetics Diagnostic Laboratory, |
RCV001798304 | SCV002043609 | likely benign | Breast and/or ovarian cancer | 2020-07-24 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000114668 | SCV004019658 | benign | Familial cancer of breast | 2023-03-31 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
Leiden Open Variation Database | RCV000114668 | SCV001193036 | 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. |