ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1272+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286024 SCV001472542 pathogenic Hereditary hemorrhagic telangiectasia type 1 2020-01-04 criteria provided, single submitter clinical testing The ENG c.1272+2T>C variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant disrupts the canonical splice donor site of intron 9, which is likely to negatively impact gene function. Based on available information, this variant is considered to be pathogenic.

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