ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5468-10C>A (rs8176316)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000168524 SCV000602676 benign not specified 2015-11-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV000463892 SCV000540966 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112663 SCV000145527 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Color RCV000580840 SCV000683320 benign Hereditary cancer-predisposing syndrome 2014-12-06 criteria provided, single submitter clinical testing
Counsyl RCV000112663 SCV000153994 benign Breast-ovarian cancer, familial 1 2014-01-02 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168524 SCV000591634 benign not specified 2014-06-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168524 SCV000228063 benign not specified 2015-07-08 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112663 SCV000244520 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 0.01626 (African), derived from 1000 genomes (2012-04-30).
Integrated Genetics/Laboratory Corporation of America RCV000167846 SCV000494331 benign Hereditary breast and ovarian cancer syndrome 2014-04-07 criteria provided, single submitter clinical testing
Invitae RCV000167846 SCV000077020 benign Hereditary breast and ovarian cancer syndrome 2018-01-22 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112663 SCV000267721 benign Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
Pathway Genomics RCV000112663 SCV000189894 likely benign Breast-ovarian cancer, familial 1 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000168524 SCV000806974 benign not specified 2017-07-19 criteria provided, single submitter clinical testing

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