ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1843_1845TCT[1] (p.Ser616del) (rs80358329)

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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000679684 SCV000075621 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Counsyl RCV000031011 SCV000154019 likely benign Breast-ovarian cancer, familial 1 2014-02-05 criteria provided, single submitter literature only
Ambry Genetics RCV000131329 SCV000186303 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000031011 SCV000195894 benign Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
GeneDx RCV000249365 SCV000209931 likely benign not specified 2018-02-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000249365 SCV000311786 likely benign not specified criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000031011 SCV000575706 uncertain significance Breast-ovarian cancer, familial 1 2015-08-27 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000047608 SCV000576445 likely benign Hereditary breast and ovarian cancer syndrome 2017-02-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000249365 SCV000600269 likely benign not specified 2017-04-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000249365 SCV000602730 likely benign not specified 2017-02-21 criteria provided, single submitter clinical testing
Color RCV000131329 SCV000682991 likely benign Hereditary cancer-predisposing syndrome 2014-12-16 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031011 SCV000744671 uncertain significance Breast-ovarian cancer, familial 1 2017-05-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679684 SCV000806901 likely benign not provided 2016-04-25 criteria provided, single submitter clinical testing
Mendelics RCV000047608 SCV000839279 likely benign Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679684 SCV000888852 benign not provided 2018-05-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769722 SCV000901143 likely benign Breast and/or ovarian cancer 2017-08-30 criteria provided, single submitter clinical testing
Mendelics RCV000031011 SCV001140594 likely benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031011 SCV000053604 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031011 SCV000144201 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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