ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) (rs111536363)

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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 RCV000129045 SCV000172957 benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing
Color RCV000129045 SCV000684196 likely benign Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
Counsyl RCV000409120 SCV000489835 benign Fanconi anemia, complementation group J 2016-06-08 criteria provided, single submitter clinical testing
Counsyl RCV000410719 SCV000489836 benign Neoplasm of ovary 2016-06-08 criteria provided, single submitter clinical testing
GeneDx RCV000120395 SCV000167430 benign not specified 2014-02-06 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 RCV000120395 SCV000593765 likely benign not specified 2016-04-21 criteria provided, single submitter clinical testing
ITMI RCV000120395 SCV000084547 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000296906 SCV000404598 likely benign Neoplasm of the breast 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354192 SCV000404599 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000123355 SCV000166678 benign Familial cancer of breast; Fanconi anemia, complementation group J 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120395 SCV000807129 benign not specified 2016-12-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120395 SCV000600899 benign not specified 2016-12-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759708 SCV000889211 benign not provided 2016-12-07 criteria provided, single submitter clinical testing

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