ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5406+8T>C (rs55946644)

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Total submissions: 16
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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) RCV000112640 SCV000244535 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 0.02033 (African), derived from 1000 genomes (2012-04-30).
Counsyl RCV000112640 SCV000220276 benign Breast-ovarian cancer, familial 1 2014-04-28 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168523 SCV000227831 benign not specified 2014-07-02 criteria provided, single submitter clinical testing
Invitae RCV000857438 SCV000262328 benign not provided 2019-03-03 criteria provided, single submitter clinical testing
Vantari Genetics RCV000210819 SCV000267001 benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000204121 SCV000403054 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000204121 SCV000494360 benign Hereditary breast and ovarian cancer syndrome 2014-04-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV000458390 SCV000540968 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000112640 SCV000575718 likely benign Breast-ovarian cancer, familial 1 2015-08-07 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000168523 SCV000586911 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168523 SCV000591625 benign not specified 2012-11-16 criteria provided, single submitter clinical testing
Color RCV000210819 SCV000683310 benign Hereditary cancer-predisposing syndrome 2015-06-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112640 SCV000744583 benign Breast-ovarian cancer, familial 1 2017-05-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000168523 SCV000806972 benign not specified 2016-10-03 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112640 SCV000145495 benign Breast-ovarian cancer, familial 1 2006-07-19 no assertion criteria provided clinical testing
True Health Diagnostics RCV000210819 SCV000787911 likely benign Hereditary cancer-predisposing syndrome 2017-12-08 no assertion criteria provided clinical testing

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