Total submissions: 18
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000077285 | SCV000244432 | benign | Breast-ovarian cancer, familial 2 | 2015-08-10 | reviewed by expert panel | curation | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000741 |
Invitae | RCV000167848 | SCV000072068 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000120345 | SCV000167346 | benign | not specified | 2013-10-08 | 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. |
Michigan Medical Genetics Laboratories, |
RCV000077285 | SCV000195970 | benign | Breast-ovarian cancer, familial 2 | 2014-11-03 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000120345 | SCV000202280 | benign | not specified | 2014-02-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000162622 | SCV000213057 | 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 | RCV000077285 | SCV000220279 | benign | Breast-ovarian cancer, familial 2 | 2014-04-29 | criteria provided, single submitter | literature only | |
Illumina Clinical Services Laboratory, |
RCV000077285 | SCV000383657 | likely benign | Breast-ovarian cancer, familial 2 | 2018-02-02 | 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, |
RCV000299643 | SCV000383658 | likely benign | Fanconi anemia, complementation group D1 | 2018-02-02 | 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 | RCV000167848 | SCV000494312 | benign | Hereditary breast and ovarian cancer syndrome | 2014-03-04 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000120345 | SCV000591823 | benign | not specified | 2013-06-24 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001283408 | SCV000602853 | benign | none provided | 2020-08-08 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000162622 | SCV000683500 | benign | Hereditary cancer-predisposing syndrome | 2015-09-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000120345 | SCV000805676 | benign | not specified | 2016-11-02 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000120345 | SCV000084497 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Sharing Clinical Reports Project |
RCV000077285 | SCV000109082 | benign | Breast-ovarian cancer, familial 2 | 2012-05-01 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000077285 | SCV000146107 | benign | Breast-ovarian cancer, familial 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000656593 | SCV000778655 | benign | not provided | 2018-02-28 | no assertion criteria provided | clinical testing |