ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.-5-59C>T (rs563686436)

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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 RCV001002319 SCV001160212 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2019-01-06 criteria provided, single submitter clinical testing The ACVRL1 c.-5-59C>T variant (rs563686436), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on four alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant occurs in the 5' untranslated region at a nucleotide that is weakly conserved and does not create a novel protein translation start codon. Due to limited information, the clinical significance of the c.-5-59C>T variant is uncertain at this time.

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