ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.852C>T (p.Val284=) (rs144940449)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212304 SCV000210855 benign not specified 2014-07-01 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.
Ambry Genetics RCV000160349 SCV000214401 likely benign Hereditary cancer-predisposing syndrome 2014-07-31 criteria provided, single submitter clinical testing
Invitae RCV001085191 SCV000259993 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000410903 SCV000489865 likely benign Fanconi anemia, complementation group J 2016-08-29 criteria provided, single submitter clinical testing
Counsyl RCV000411984 SCV000489866 likely benign Neoplasm of ovary 2016-08-29 criteria provided, single submitter clinical testing
Color RCV000160349 SCV000684308 likely benign Hereditary cancer-predisposing syndrome 2016-04-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759717 SCV000889227 likely benign not provided 2018-08-20 criteria provided, single submitter clinical testing

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