ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1936-4C>T (rs587780552)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572306 SCV000661479 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000572306 SCV000684168 likely benign Hereditary cancer-predisposing syndrome 2015-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000605617 SCV000731024 likely benign not specified 2017-08-09 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 RCV000119210 SCV000153952 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-10-17 criteria provided, single submitter clinical testing

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