ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) (rs28897706)

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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000444014 SCV000885104 benign not provided 2017-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162581 SCV000212997 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077475 SCV000145798 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768586 SCV000219297 likely benign Breast and/or ovarian cancer 2015-09-16 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148427 SCV000190126 likely benign Neoplasm of the breast 2014-06-01 criteria provided, single submitter research
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120308 SCV000586921 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000444014 SCV000511127 uncertain significance not provided 2016-07-29 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Color RCV000162581 SCV000684091 likely benign Hereditary cancer-predisposing syndrome 2015-01-14 criteria provided, single submitter clinical testing
Counsyl RCV000077475 SCV000220357 benign Breast-ovarian cancer, familial 2 2014-05-29 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000077475 SCV000744399 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120308 SCV000591723 benign not specified 2012-11-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000077475 SCV000733221 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077475 SCV000244497 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 = 0.000583
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000077475 SCV000743254 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
ITMI RCV000120308 SCV000084460 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000045896 SCV000383624 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354967 SCV000383625 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000045896 SCV000073909 benign Hereditary breast and ovarian cancer syndrome 2017-12-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120308 SCV000538481 uncertain significance 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: Multiple publications classify as VUS/not pathogenic; ExAC: 0.1% (83/72816) of European chromosomes (Finnish and Non-Finnish)
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000444014 SCV000778639 benign not provided 2017-10-25 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000077475 SCV000195956 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000444014 SCV000805802 likely benign not provided 2017-07-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077475 SCV000109273 benign Breast-ovarian cancer, familial 2 2012-09-11 no assertion criteria provided clinical testing

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