ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) (rs28897710)

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Total submissions: 22
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120304 SCV000602855 benign not specified 2017-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128961 SCV000172842 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034432 SCV000043199 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112970 SCV000145936 not provided Breast-ovarian cancer, familial 2 no assertion provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768623 SCV000219306 benign Breast and/or ovarian cancer 2016-04-21 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148412 SCV000190111 likely benign Neoplasm of the breast 2014-06-01 no assertion criteria provided research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000034432 SCV000892064 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
Color RCV000128961 SCV000683448 likely benign Hereditary cancer-predisposing syndrome 2015-02-15 criteria provided, single submitter clinical testing
Counsyl RCV000112970 SCV000154076 likely benign Breast-ovarian cancer, familial 2 2014-02-19 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112970 SCV000744416 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120304 SCV000591767 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112970 SCV000733234 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120304 SCV000224753 benign not specified 2015-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000074516 SCV000108601 benign Familial cancer of breast 2014-01-22 criteria provided, single submitter clinical testing The variant is found in BRCA1-BRCA2,PANC-HEREDIC,BR-OV-HEREDIC,HIRISK-BR-HEREDIC,ENDOM-HEREDIC panel(s).
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112970 SCV000743265 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
ITMI RCV000120304 SCV000084456 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000043885 SCV000383639 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000043885 SCV000071898 benign Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120304 SCV000538470 likely 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: ExAC: 0.8% (53/6604) Finnish chromosomes
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034432 SCV000778648 likely benign not provided 2017-12-18 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112970 SCV000195963 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000128961 SCV000805237 likely benign Hereditary cancer-predisposing syndrome 2018-04-27 no assertion criteria provided clinical testing

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