Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001084040 | SCV000166675 | benign | Familial cancer of breast; Fanconi anemia complementation group J | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000212316 | SCV000210860 | benign | not specified | 2014-06-10 | 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 | RCV000160354 | SCV000213727 | likely benign | Hereditary cancer-predisposing syndrome | 2014-09-05 | 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, |
RCV000160354 | SCV000684180 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-22 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000662417 | SCV000784853 | likely benign | Fanconi anemia complementation group J; Ovarian neoplasm | 2017-01-11 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000212316 | SCV000861676 | likely benign | not specified | 2018-06-19 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477526 | SCV000889205 | benign | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000212316 | SCV002068902 | likely benign | not specified | 2022-01-04 | criteria provided, single submitter | clinical testing | |
National Health Laboratory Service, |
RCV002225393 | SCV002505031 | benign | Hereditary breast ovarian cancer syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000160354 | SCV002531388 | benign | Hereditary cancer-predisposing syndrome | 2021-03-24 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV003315826 | SCV004019397 | benign | Familial cancer of breast | 2023-03-01 | 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. |
ARUP Laboratories, |
RCV003477526 | SCV004564502 | benign | not provided | 2023-10-16 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV003477526 | SCV005211180 | likely benign | not provided | criteria provided, single submitter | not provided | ||
True Health Diagnostics | RCV000160354 | SCV000787964 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-25 | no assertion criteria provided | clinical testing |