ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) (rs11571707)

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Total submissions: 28
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000413233 SCV000492485 uncertain significance Neoplasm of the breast criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224946 SCV000602783 benign not provided 2017-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132404 SCV000187496 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000456149 SCV000541054 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000082973 SCV000147099 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768635 SCV000219395 benign Breast and/or ovarian cancer 2016-11-11 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120360 SCV000586974 benign not specified 2017-04-19 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224946 SCV000281582 benign not provided 2016-05-17 criteria provided, single submitter clinical testing
Color RCV000132404 SCV000537396 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000082973 SCV000154062 benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000082973 SCV000744519 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120360 SCV000592113 benign not specified 2012-11-14 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000119156 SCV000257619 benign Hereditary breast and ovarian cancer syndrome 2015-02-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120360 SCV000226198 benign not specified 2015-01-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000082973 SCV000321179 benign Breast-ovarian cancer, familial 2 2016-09-28 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.1066 (Admixed American/Latino), derived from 1000 genomes (2013-05-02).
Fulgent Genetics,Fulgent Genetics RCV000082973 SCV000575735 likely benign Breast-ovarian cancer, familial 2 2015-11-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000082973 SCV000743333 likely benign Breast-ovarian cancer, familial 2 2015-03-29 criteria provided, single submitter clinical testing
ITMI RCV000120360 SCV000084512 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000119156 SCV000383768 benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000119156 SCV000494361 benign Hereditary breast and ovarian cancer syndrome 2014-01-10 criteria provided, single submitter clinical testing
Invitae RCV000119156 SCV000153876 benign Hereditary breast and ovarian cancer syndrome 2017-08-22 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000224946 SCV000778710 benign not provided 2016-12-12 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000082973 SCV000196005 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Pathway Genomics RCV000082973 SCV000187730 benign Breast-ovarian cancer, familial 2 2014-07-24 no assertion criteria provided literature only
PreventionGenetics RCV000120360 SCV000301775 benign not specified criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082973 SCV000115047 benign Breast-ovarian cancer, familial 2 2012-10-04 no assertion criteria provided clinical testing
True Health Diagnostics RCV000132404 SCV000787949 benign Hereditary cancer-predisposing syndrome 2018-01-24 no assertion criteria provided clinical testing
Vantari Genetics RCV000132404 SCV000267023 benign Hereditary cancer-predisposing syndrome 2015-12-01 criteria provided, single submitter clinical testing

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