ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.787+1295C>T (rs1799949)

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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111763 SCV000244746 benign Breast-ovarian cancer, familial 1 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.2154 (African), 0.3562 (European), derived from 1000 genomes (2012-04-30).
Counsyl RCV000111763 SCV000154005 benign Breast-ovarian cancer, familial 1 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 32.4 %.
Ambry Genetics RCV000128966 SCV000172848 benign Hereditary cancer-predisposing syndrome 2014-08-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Michigan Medical Genetics Laboratories,University of Michigan RCV000111763 SCV000195900 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152868 SCV000202271 benign not specified 2015-07-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152868 SCV000268806 benign not specified 2016-02-09 criteria provided, single submitter clinical testing p.Ser694Ser in exon 10 of BRCA1: This variant is not expected to have clinical s ignificance because it has been identified in 34.8% (42232/121264) of total chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs1799949).
Color RCV000128966 SCV000292081 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152868 SCV000311788 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322007 SCV000403067 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000322007 SCV000494307 benign Hereditary breast and ovarian cancer syndrome 2013-12-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000114984 SCV000540953 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000152868 SCV000586881 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000152868 SCV000591368 benign not specified 2015-05-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000152868 SCV000602659 benign not specified 2015-04-23 criteria provided, single submitter clinical testing
GeneKor MSA RCV000152868 SCV000693605 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000111763 SCV000743420 benign Breast-ovarian cancer, familial 1 2014-10-10 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000111763 SCV000744665 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111763 SCV000144293 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111763 SCV000144294 benign Breast-ovarian cancer, familial 1 2000-01-01 no assertion criteria provided clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000114984 SCV000148885 untested Familial cancer of breast no assertion provided not provided Converted during submission to not provided.
Sharing Clinical Reports Project (SCRP) RCV000111763 SCV000189331 benign Breast-ovarian cancer, familial 1 2011-03-22 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000111763 SCV000733648 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656637 SCV000778762 benign not provided 2016-12-07 no assertion criteria provided clinical testing

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