ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1629-10T>G (rs1064793653)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486212 SCV000566697 uncertain significance not provided 2015-05-22 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.1629-10T>G or IVS11-10T>G and consists of a T>G nucleotide substitution at the -10 position of intron 11 of the BRIP1 gene. Multiple in silico models predict this variant to damage the nearby natural acceptor site, and to possibly cause abnormal gene splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The thymine (T) nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether BRIP1 c.1629-10T>G is pathogenic or benign. We consider it to be a variant of uncertain significance.

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