ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) (rs28997570)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000590718 SCV000885125 likely benign not provided 2017-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000116167 SCV000183882 benign Hereditary cancer-predisposing syndrome 2014-06-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Color RCV000116167 SCV000910553 likely benign Hereditary cancer-predisposing syndrome 2015-02-11 criteria provided, single submitter clinical testing
Counsyl RCV000412293 SCV000489849 likely benign Fanconi anemia, complementation group J 2016-08-12 criteria provided, single submitter clinical testing
Counsyl RCV000410013 SCV000489850 likely benign Neoplasm of ovary 2016-08-12 criteria provided, single submitter clinical testing
GeneDx RCV000120408 SCV000150076 likely benign not specified 2017-12-14 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.
Genetic Services Laboratory, University of Chicago RCV000120408 SCV000593768 likely benign not specified 2016-01-13 criteria provided, single submitter clinical testing
ITMI RCV000120408 SCV000084560 not provided not specified 2013-09-19 no assertion provided reference population
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000116167 SCV000576452 likely benign Hereditary cancer-predisposing syndrome 2017-02-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590718 SCV000699736 benign not provided 2016-01-04 criteria provided, single submitter clinical testing
Invitae RCV000123367 SCV000166690 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2018-01-06 criteria provided, single submitter clinical testing
PreventionGenetics RCV000590718 SCV000807158 likely benign not provided 2016-12-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120408 SCV000600932 likely benign not specified 2017-02-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590718 SCV000889231 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing

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