ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.996G>T (p.Arg332=) (rs80356836)

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Total submissions: 8
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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) RCV000111526 SCV000578422 likely benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
GeneDx RCV000421881 SCV000515954 likely benign not specified 2015-03-12 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 RCV000575991 SCV000660979 likely benign Hereditary cancer-predisposing syndrome 2016-02-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000575991 SCV000683382 likely benign Hereditary cancer-predisposing syndrome 2016-12-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000421881 SCV000699325 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000587592 SCV000806990 likely benign not provided 2017-03-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587592 SCV000888962 likely benign not provided 2017-11-15 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111526 SCV000143977 uncertain significance Breast-ovarian cancer, familial 1 2003-05-23 no assertion criteria provided clinical testing

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