ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.408A>C (p.Ala136=) (rs876660891)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571585 SCV000666221 likely benign Hereditary cancer-predisposing syndrome 2016-04-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000571585 SCV000684277 likely benign Hereditary cancer-predisposing syndrome 2016-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000435495 SCV000522207 likely benign not specified 2015-12-16 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 RCV000476947 SCV000558580 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-08-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000435495 SCV000600921 uncertain significance not specified 2017-01-06 criteria provided, single submitter clinical testing

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