ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) (rs4986850)

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Total submissions: 25
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034730 SCV000602670 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129094 SCV000183805 benign Hereditary cancer-predisposing syndrome 2014-10-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000157727 SCV000540960 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034730 SCV000043178 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111758 SCV000144288 benign Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120289 SCV000586880 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Color RCV000129094 SCV000292092 benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
Counsyl RCV000111758 SCV000154007 benign Breast-ovarian cancer, familial 1 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 7.0 %.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000111758 SCV000744666 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120289 SCV000591367 benign not specified 2014-10-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000111758 SCV000733649 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120289 SCV000202272 benign not specified 2015-03-25 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000111758 SCV000244313 benign Breast-ovarian cancer, familial 1 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 = 0.00000000000204. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.01016 (African), 0.08443 (European), derived from 1000 genomes (2012-04-30).
GeneDx RCV000157727 SCV000167248 benign Familial cancer of breast 2013-09-03 criteria provided, single submitter clinical testing The variant is found in BRCA1-BRCA2 panel(s).
GeneKor MSA RCV000120289 SCV000693604 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000111758 SCV000743421 benign Breast-ovarian cancer, familial 1 2014-10-09 criteria provided, single submitter clinical testing
ITMI RCV000120289 SCV000084441 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000047702 SCV000403068 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000047702 SCV000494306 benign Hereditary breast and ovarian cancer syndrome 2014-11-13 criteria provided, single submitter clinical testing
Invitae RCV000047702 SCV000075715 benign Hereditary breast and ovarian cancer syndrome 2017-01-30 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034730 SCV000778763 benign not provided 2016-12-27 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000111758 SCV000195899 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120289 SCV000311787 benign not specified criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000111758 SCV000189330 benign Breast-ovarian cancer, familial 1 2011-03-17 no assertion criteria provided clinical testing
True Health Diagnostics RCV000129094 SCV000787895 benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing

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