ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2097+7G>A (rs4988352)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000579602 SCV000684182 likely benign Hereditary cancer-predisposing syndrome 2015-03-18 criteria provided, single submitter clinical testing
Counsyl RCV000412184 SCV000489809 likely benign Fanconi anemia, complementation group J 2016-06-03 criteria provided, single submitter clinical testing
Counsyl RCV000410211 SCV000489810 likely benign Neoplasm of ovary 2016-06-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000124038 SCV000859954 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000124038 SCV000167447 benign not specified 2013-10-22 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 RCV000261975 SCV000404600 uncertain significance Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300739 SCV000404601 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000579602 SCV000803168 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV000123353 SCV000166676 benign Familial cancer of breast; Fanconi anemia, complementation group J 2018-01-23 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124038 SCV000807126 benign not specified 2017-05-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000124038 SCV000600897 likely benign not specified 2017-02-09 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000579602 SCV000805251 likely benign Hereditary cancer-predisposing syndrome 2018-06-18 no assertion criteria provided clinical testing

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