ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1341-3C>G (rs864622597)

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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 RCV000568412 SCV000668874 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000568412 SCV000684127 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-26 criteria provided, single submitter clinical testing
Invitae RCV000204500 SCV000261271 uncertain significance Familial cancer of breast 2015-10-16 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the BRIP1 mRNA. It does not directly change the encoded amino acid sequence of the BRIP1 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Mendelics RCV000709549 SCV000839382 uncertain significance Fanconi anemia, complementation group J 2018-07-02 criteria provided, single submitter clinical testing

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