ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) (rs4988345)

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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 RCV000129172 SCV000183905 benign Hereditary cancer-predisposing syndrome 2014-06-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512967 SCV000608830 likely benign not provided 2017-03-31 criteria provided, single submitter clinical testing
Color RCV000129172 SCV000684285 likely benign Hereditary cancer-predisposing syndrome 2014-11-20 criteria provided, single submitter clinical testing
Counsyl RCV000410168 SCV000489813 likely benign Fanconi anemia, complementation group J 2016-06-08 criteria provided, single submitter clinical testing
Counsyl RCV000411236 SCV000489814 likely benign Neoplasm of ovary 2016-06-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120405 SCV000231807 likely benign not specified 2015-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000120405 SCV000167436 benign not specified 2013-12-02 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.
ITMI RCV000120405 SCV000084557 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000123360 SCV000166683 benign Familial cancer of breast; Fanconi anemia, complementation group J 2018-01-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120405 SCV000807152 benign not specified 2017-03-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120405 SCV000600923 likely benign not specified 2017-05-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000512967 SCV000889219 likely benign not provided 2018-05-11 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000129172 SCV000787971 likely benign Hereditary cancer-predisposing syndrome 2017-10-31 no assertion criteria provided clinical testing

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