ClinVar Miner

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

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Total submissions: 10
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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 In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001085116 SCV000253621 benign Familial cancer of breast; Fanconi anemia, complementation group J 2020-11-24 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 RCV000759701 SCV000512421 likely benign not provided 2020-04-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000442269 SCV000593770 likely benign not specified 2017-05-25 criteria provided, single submitter clinical testing
Color Health, Inc 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000442269 SCV000917066 likely benign not specified 2019-08-10 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000165296 SCV001950169 likely benign Hereditary cancer-predisposing syndrome 2021-09-15 no assertion criteria provided clinical testing

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