ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1890A>G (p.Thr630=) (rs145796331)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165296 SCV000216015 likely benign Hereditary cancer-predisposing syndrome 2014-08-05 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Invitae RCV001085116 SCV000253621 benign Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000412282 SCV000490061 likely benign Fanconi anemia, complementation group J 2016-10-26 criteria provided, single submitter clinical testing
Counsyl RCV000409844 SCV000490062 likely benign Neoplasm of ovary 2016-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000442269 SCV000512421 likely benign not specified 2018-03-12 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 RCV000442269 SCV000593770 likely benign not specified 2017-05-25 criteria provided, single submitter clinical testing
Color RCV000165296 SCV000684165 likely benign Hereditary cancer-predisposing syndrome 2016-06-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759701 SCV000889200 benign not provided 2018-06-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000442269 SCV000917066 likely benign not specified 2019-08-10 criteria provided, single submitter clinical testing

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