Total submissions: 24
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112841 | SCV000578017 | benign | Breast-ovarian cancer, familial 2 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.002 (Non-Finnish European), 0.0018 (Finnish), 0.0014 (South Asian), derived from ExAC (2014-12-17). |
Invitae | RCV000043713 | SCV000071726 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000168619 | SCV000167427 | benign | not specified | 2013-12-16 | 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, |
RCV000112841 | SCV000196033 | benign | Breast-ovarian cancer, familial 2 | 2014-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000162524 | SCV000212919 | likely benign | Hereditary cancer-predisposing syndrome | 2014-06-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000768612 | SCV000219431 | likely benign | Breast and/or ovarian cancer | 2017-09-07 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000260989 | SCV000383809 | uncertain significance | Fanconi anemia, complementation group D1 | 2018-01-12 | 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. |
Illumina Clinical Services Laboratory, |
RCV000043713 | SCV000383810 | likely benign | Hereditary breast and ovarian cancer syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000043713 | SCV000494297 | benign | Hereditary breast and ovarian cancer syndrome | 2014-01-27 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000464865 | SCV000541035 | benign | Familial cancer of breast | 2017-02-23 | criteria provided, single submitter | clinical testing | |
Cancer Genetics and Genomics Laboratory, |
RCV000168619 | SCV000586994 | benign | not specified | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000168619 | SCV000592311 | benign | not specified | 2013-03-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000168619 | SCV000593734 | likely benign | not specified | 2017-05-11 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001282333 | SCV000602883 | benign | none provided | 2019-10-31 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000162524 | SCV000683393 | benign | Hereditary cancer-predisposing syndrome | 2015-04-13 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000168619 | SCV000708489 | likely benign | not specified | 2017-05-15 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000112841 | SCV000743530 | benign | Breast-ovarian cancer, familial 2 | 2014-10-10 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000112841 | SCV000744795 | benign | Breast-ovarian cancer, familial 2 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000656626 | SCV000805641 | likely benign | not provided | 2017-05-15 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000112841 | SCV001139286 | likely benign | Breast-ovarian cancer, familial 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000112841 | SCV000145753 | uncertain significance | Breast-ovarian cancer, familial 2 | 2000-06-12 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000112841 | SCV000733343 | benign | Breast-ovarian cancer, familial 2 | no assertion criteria provided | clinical testing | ||
Mayo Clinic Genetic Testing Laboratories, |
RCV000656626 | SCV000778728 | likely benign | not provided | 2017-05-15 | no assertion criteria provided | clinical testing | |
True Health Diagnostics | RCV000162524 | SCV000787914 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-10 | no assertion criteria provided | clinical testing |