ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2893A>C (p.Arg965=) (rs113697814)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162637 SCV000213074 likely benign Hereditary cancer-predisposing syndrome 2016-04-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000300079 SCV000329165 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.2893A>C at the DNA level. This variant is silent at the coding level, preserving an Arginine at codon 965. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. In silico analyses, which include splice predictors and evolutionary conservation, are uninformative in their assessment as to whether or not the variant is damaging. BRIP1 c.2893A>C was not observed at a significant allele frequency in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether BRIP1 c.2893A>C is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000457109 SCV000558586 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-09-08 criteria provided, single submitter clinical testing

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