ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=) (rs879255493)

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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) 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;
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 2019-10-16 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 In silico models in agreement (benign);Other data supporting benign classification;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 Health, Inc 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
Brotman Baty Institute,University of Washington RCV000238914 SCV001242710 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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