Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001286121 | SCV001472647 | uncertain significance | Telangiectasia, hereditary hemorrhagic, type 1 | 2020-05-29 | criteria provided, single submitter | clinical testing | The ENG c.1216C>G; p.Arg406Gly variant (rs751787590), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 406 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of this variant is uncertain at this time. |
Invitae | RCV001871683 | SCV002242396 | likely benign | Hereditary hemorrhagic telangiectasia | 2022-07-25 | criteria provided, single submitter | clinical testing |