ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.380-9T>C (rs876661141)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000217751 SCV000279650 uncertain significance not provided 2017-10-17 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.380-9T>C or IVS4-9T>C and consists of a T>C nucleotide substitution at the -9 position of intron 4 of the BRIP1 gene. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The thymine (T) nucleotide that is altered is conserved across species. In silico splicing models are uninformative; therefore, in the absence of RNA or functional studies, the actual effect of this variant is unknown. Based on currently available information, it is unclear whether BRIP1 c.380-9T>C is pathogenic or benign. We consider it to be a variant of uncertain significance.

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