ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.787+1524T>C (rs16940)

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Total submissions: 22
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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) RCV000111822 SCV000244745 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), 0.128 (African), 0.3536 (European), derived from 1000 genomes (2012-04-30).
Counsyl RCV000111822 SCV000154000 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 RCV000128982 SCV000172869 benign Hereditary cancer-predisposing syndrome 2014-08-01 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000111822 SCV000195902 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152867 SCV000202270 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152867 SCV000311789 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264575 SCV000403066 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000264575 SCV000494309 benign Hereditary breast and ovarian cancer syndrome 2013-12-18 criteria provided, single submitter clinical testing
Color RCV000128982 SCV000537331 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000114985 SCV000540954 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000152867 SCV000586883 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000152867 SCV000602664 benign not specified 2015-04-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152867 SCV000605735 benign not specified 2016-12-02 criteria provided, single submitter clinical testing p.Leu771Leu in exon 10 of BRCA1: This variant is not expected to have clinical s ignificance because it has been identified in 50% (8241/16498) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs16940).
GeneKor MSA RCV000152867 SCV000693606 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000111822 SCV000743419 benign Breast-ovarian cancer, familial 1 2014-10-10 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000111822 SCV000744663 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000755639 SCV000883036 benign Familial cancer of breast; Breast-ovarian cancer, familial 1; Pancreatic cancer 4; FANCONI ANEMIA, COMPLEMENTATION GROUP S 2018-10-31 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111822 SCV000144376 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000114985 SCV000148887 untested Familial cancer of breast no assertion provided not provided Converted during submission to not provided.
Sharing Clinical Reports Project (SCRP) RCV000111822 SCV000189332 benign Breast-ovarian cancer, familial 1 2011-03-22 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000111822 SCV000733646 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656636 SCV000778759 benign not provided 2016-12-07 no assertion criteria provided clinical testing

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