Total submissions: 26
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000083150 | SCV000245217 | 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 0.03455 (African), derived from 1000 genomes (2012-04-30). |
Invitae | RCV000045638 | SCV000073651 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000083150 | SCV000154075 | benign | Breast-ovarian cancer, familial 2 | 2014-02-20 | criteria provided, single submitter | literature only | |
Gene |
RCV000120365 | SCV000167414 | benign | not specified | 2013-09-17 | 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 | RCV000131023 | SCV000185951 | benign | Hereditary cancer-predisposing syndrome | 2014-06-16 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Michigan Medical Genetics Laboratories, |
RCV000083150 | SCV000196018 | benign | Breast-ovarian cancer, familial 2 | 2014-11-03 | criteria provided, single submitter | clinical testing | |
Pathway Genomics | RCV000083150 | SCV000223760 | benign | Breast-ovarian cancer, familial 2 | 2014-10-30 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000120365 | SCV000227872 | benign | not specified | 2014-07-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000120365 | SCV000301781 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000083150 | SCV000383792 | likely benign | Breast-ovarian cancer, familial 2 | 2018-01-29 | 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, |
RCV000317148 | SCV000383793 | likely benign | Fanconi anemia, complementation group D1 | 2018-01-29 | 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. |
A. |
RCV000413753 | SCV000492483 | uncertain significance | Breast neoplasm | criteria provided, single submitter | research | ||
Integrated Genetics/Laboratory Corporation of America | RCV000045638 | SCV000494365 | benign | Hereditary breast and ovarian cancer syndrome | 2014-01-20 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000120365 | SCV000538464 | benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ClinVar: Ben by expert panel |
Baylor Genetics | RCV000463955 | SCV000541026 | benign | Familial cancer of breast | 2017-02-23 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000120365 | SCV000592232 | benign | not specified | 2012-08-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001283529 | SCV000602819 | benign | none provided | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Color Health, |
RCV000131023 | SCV000684000 | benign | Hereditary cancer-predisposing syndrome | 2015-04-06 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000083150 | SCV000744550 | benign | Breast-ovarian cancer, familial 2 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034467 | SCV000043233 | no known pathogenicity | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Benign. |
ITMI | RCV000120365 | SCV000084517 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Sharing Clinical Reports Project |
RCV000083150 | SCV000115224 | benign | Breast-ovarian cancer, familial 2 | 2012-05-01 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000083150 | SCV000147469 | uncertain significance | Breast-ovarian cancer, familial 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000083150 | SCV000733325 | benign | Breast-ovarian cancer, familial 2 | no assertion criteria provided | clinical testing | ||
Mayo Clinic Genetic Testing Laboratories, |
RCV000034467 | SCV000778720 | benign | not provided | 2017-10-11 | no assertion criteria provided | clinical testing | |
True Health Diagnostics | RCV000131023 | SCV000787956 | benign | Hereditary cancer-predisposing syndrome | 2017-11-14 | no assertion criteria provided | clinical testing |