Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001287872 | SCV001474613 | uncertain significance | Telangiectasia, hereditary hemorrhagic, type 5 | 2019-10-30 | criteria provided, single submitter | clinical testing | The GDF2 c.716C>T; p.Thr239Met variant (rs782560993), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the East Asian population with an allele frequency of 0.13% (25/19952 alleles) in the Genome Aggregation Database. The threonine at codon 239 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Thr239Met variant is uncertain at this time. |
Labcorp Genetics |
RCV001287872 | SCV002449339 | likely benign | Telangiectasia, hereditary hemorrhagic, type 5 | 2024-10-05 | criteria provided, single submitter | clinical testing |