ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.195A>G (p.Gln65=) (rs141436143)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000160348 SCV000213547 likely benign Hereditary cancer-predisposing syndrome 2014-08-13 criteria provided, single submitter clinical testing
Color RCV000160348 SCV000684173 benign Hereditary cancer-predisposing syndrome 2016-10-03 criteria provided, single submitter clinical testing
Counsyl RCV000409428 SCV000490013 likely benign Fanconi anemia, complementation group J 2016-09-26 criteria provided, single submitter clinical testing
Counsyl RCV000410958 SCV000490014 likely benign Neoplasm of ovary 2016-09-26 criteria provided, single submitter clinical testing
GeneDx RCV000212297 SCV000210854 benign not specified 2014-09-09 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.
Invitae RCV000200414 SCV000252874 benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-12-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212297 SCV000600896 likely benign not specified 2017-04-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759702 SCV000889202 likely benign not provided 2017-04-20 criteria provided, single submitter clinical testing

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