Total submissions: 19
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000113286 | SCV000245031 | benign | Breast-ovarian cancer, familial 2 | 2015-01-12 | reviewed by expert panel | curation | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0122 (African), derived from 1000 genomes (2012-04-30). |
Invitae | RCV000167832 | SCV000072388 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000120327 | SCV000202286 | benign | not specified | 2015-05-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000162766 | SCV000213243 | benign | Hereditary cancer-predisposing syndrome | 2014-11-19 | 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. |
Counsyl | RCV000113286 | SCV000220272 | benign | Breast-ovarian cancer, familial 2 | 2014-04-25 | criteria provided, single submitter | literature only | |
Vantari Genetics | RCV000162766 | SCV000267016 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-21 | criteria provided, single submitter | clinical testing | |
Michigan Medical Genetics Laboratories, |
RCV000113286 | SCV000267764 | benign | Breast-ovarian cancer, familial 2 | 2016-04-21 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000113286 | SCV000383695 | likely benign | Breast-ovarian cancer, familial 2 | 2018-10-29 | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Clinical Services Laboratory, |
RCV000346290 | SCV000383696 | likely benign | Fanconi anemia, complementation group D1 | 2018-10-29 | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Integrated Genetics/Laboratory Corporation of America | RCV000167832 | SCV000494351 | benign | Hereditary breast and ovarian cancer syndrome | 2014-03-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000113286 | SCV000575755 | likely benign | Breast-ovarian cancer, familial 2 | 2016-01-29 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000120327 | SCV000591896 | benign | not specified | 2013-08-13 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000120327 | SCV000593716 | likely benign | not specified | 2017-02-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001283466 | SCV000602745 | benign | none provided | 2019-11-08 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000162766 | SCV000683605 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-06 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000113286 | SCV000744453 | likely benign | Breast-ovarian cancer, familial 2 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000120327 | SCV000084479 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Breast Cancer Information Core |
RCV000113286 | SCV000146394 | benign | Breast-ovarian cancer, familial 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000656603 | SCV000778673 | likely benign | not provided | 2017-07-24 | no assertion criteria provided | clinical testing |