ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2002C>T (p.Leu668Phe) (rs80357250)

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Total submissions: 12
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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) RCV000031022 SCV000244312 benign Breast-ovarian cancer, familial 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000194
Invitae RCV000195313 SCV000075691 benign Hereditary breast and ovarian cancer syndrome 2018-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000047678 SCV000209934 likely benign not specified 2018-02-13 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 RCV000162815 SCV000213298 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000679687 SCV000224992 uncertain significance not provided 2014-09-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000047678 SCV000591362 likely benign not specified 2016-02-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679687 SCV000806907 likely benign not provided 2017-12-06 criteria provided, single submitter clinical testing
Color RCV000162815 SCV000910707 benign Hereditary cancer-predisposing syndrome 2017-02-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031022 SCV000053615 benign Breast-ovarian cancer, familial 1 2008-12-15 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031022 SCV000144272 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000195313 SCV000503555 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-08-01 no assertion criteria provided research Found in a male patient having exome sequencing for an unrelated indication. No known personal or family history of breast cancer.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735491 SCV000863629 likely benign Breast and/or ovarian cancer 2013-06-14 no assertion criteria provided clinical testing

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