Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
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. |