ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2550A>G (p.Gln850=) (rs80359785)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163041 SCV000213531 likely benign Hereditary cancer-predisposing syndrome 2014-09-26 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113060 SCV000146067 uncertain significance Breast-ovarian cancer, familial 2 1998-11-30 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769688 SCV000901101 likely benign Breast and/or ovarian cancer 2017-01-12 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000044014 SCV000586936 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-04-14 no assertion criteria provided clinical testing
Color RCV000163041 SCV000683491 likely benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000417797 SCV000591810 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000417797 SCV000512347 benign not specified 2015-03-31 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.
Illumina Clinical Services Laboratory,Illumina RCV000286274 SCV000383655 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000044014 SCV000383656 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000044014 SCV000072027 benign Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679162 SCV000805675 likely benign not provided 2018-01-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679162 SCV000887780 likely benign not provided 2017-01-30 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000113060 SCV000189300 benign Breast-ovarian cancer, familial 2 2011-03-15 no assertion criteria provided clinical testing

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