ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.999T>C (p.Ser333=) (rs1060915)

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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) RCV000112313 SCV000244710 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), 0.3588 (European), derived from 1000 genomes (2012-04-30).
Counsyl RCV000112313 SCV000154003 benign Breast-ovarian cancer, familial 1 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 32.6 %.
Ambry Genetics RCV000128938 SCV000172812 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112313 SCV000195927 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152866 SCV000202264 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152866 SCV000268808 benign not specified 2015-06-30 criteria provided, single submitter clinical testing p.Ser1436Ser in exon 12 of BRCA1: This variant is not expected to have clinical significance because it has been identified in 34.3% of chromosomes from all pop ulations by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs1060915).
PreventionGenetics,PreventionGenetics RCV000152866 SCV000311796 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311915 SCV000403058 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000311915 SCV000494325 benign Hereditary breast and ovarian cancer syndrome 2013-12-19 criteria provided, single submitter clinical testing
Color RCV000128938 SCV000537329 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000114988 SCV000540958 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000152866 SCV000586897 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000656630 SCV000602661 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
GeneKor MSA RCV000152866 SCV000693614 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112313 SCV000743396 benign Breast-ovarian cancer, familial 1 2014-10-10 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112313 SCV000744617 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000656630 SCV001000183 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112313 SCV000145052 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000114988 SCV000148890 untested Familial cancer of breast no assertion provided not provided Converted during submission to not provided.
Sharing Clinical Reports Project (SCRP) RCV000112313 SCV000189342 benign Breast-ovarian cancer, familial 1 2011-03-22 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112313 SCV000733612 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656630 SCV000778741 benign not provided 2016-12-07 no assertion criteria provided clinical testing

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