ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5897A>G (p.His1966Arg) (rs80358823)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195373 SCV000072801 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130475 SCV000185342 likely benign Hereditary cancer-predisposing syndrome 2017-09-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Other strong data supporting benign classification,In silico models in agreement (benign)
GeneDx RCV000044788 SCV000210623 likely benign not specified 2017-12-19 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000044788 SCV000600667 uncertain significance not specified 2017-07-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586187 SCV000694913 uncertain significance not provided 2016-03-10 criteria provided, single submitter clinical testing
Color RCV000130475 SCV000910850 benign Hereditary cancer-predisposing syndrome 2017-02-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031587 SCV000054193 benign Breast-ovarian cancer, familial 2 2011-01-14 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031587 SCV000146727 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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