ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.1370C>T (p.Thr457Ile) (rs56158747)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195320 SCV000076641 benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000174915 SCV000167309 benign not specified 2014-01-14 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.
Ambry Genetics RCV000131708 SCV000186746 benign Hereditary cancer-predisposing syndrome 2014-06-24 criteria provided, single submitter clinical testing
Counsyl RCV000077584 SCV000220274 benign Breast-ovarian cancer, familial 1 2014-04-26 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174915 SCV000226315 likely benign not specified 2016-01-11 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000195320 SCV000576439 likely benign Hereditary breast and ovarian cancer syndrome 2017-02-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000174915 SCV000591536 likely benign not specified 2014-01-06 criteria provided, single submitter clinical testing
Color RCV000131708 SCV000683205 likely benign Hereditary cancer-predisposing syndrome 2014-12-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679699 SCV000806957 likely benign not provided 2016-10-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000679699 SCV000885081 benign not provided 2018-02-12 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077584 SCV000109387 benign Breast-ovarian cancer, familial 1 2008-08-08 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077584 SCV000145158 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148378 SCV000190076 likely benign Neoplasm of the breast 2014-06-01 no assertion criteria provided research
True Health Diagnostics RCV000131708 SCV000787904 likely benign Hereditary cancer-predisposing syndrome 2017-12-08 no assertion criteria provided clinical testing

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