ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5406A>C (p.Thr1802=) (rs879255493)

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Total submissions: 7
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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) RCV000238914 SCV000578330 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 0.04; http://priors.hci.utah.edu/PRIORS/).
GeneDx RCV000442554 SCV000525823 likely benign not specified 2016-03-14 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.
Invitae RCV000530982 SCV000636037 likely benign Hereditary breast and ovarian cancer syndrome 2017-02-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575634 SCV000660976 likely benign Hereditary cancer-predisposing syndrome 2018-05-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign),Synonymous alterations with insufficient evidence to classify as benign
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758844 SCV000887727 likely benign not provided 2017-11-22 criteria provided, single submitter clinical testing
Color RCV000575634 SCV000904896 likely benign Hereditary cancer-predisposing syndrome 2018-03-08 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000238914 SCV000297490 uncertain significance Breast-ovarian cancer, familial 1 2011-06-09 no assertion criteria provided clinical testing

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