ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2061G>C (p.Val687=) (rs112414873)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000160354 SCV000213727 likely benign Hereditary cancer-predisposing syndrome 2014-09-05 criteria provided, single submitter clinical testing
Color RCV000160354 SCV000684180 likely benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
Counsyl RCV000662417 SCV000784853 likely benign Fanconi anemia, complementation group J; Neoplasm of ovary 2017-01-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000212316 SCV000861676 likely benign not specified 2018-06-19 criteria provided, single submitter clinical testing
GeneDx RCV000212316 SCV000210860 benign not specified 2014-06-10 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 RCV000123352 SCV000166675 benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-12-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759704 SCV000889205 benign not provided 2018-02-27 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000160354 SCV000787964 likely benign Hereditary cancer-predisposing syndrome 2017-10-25 no assertion criteria provided clinical testing

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