Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV001027861 | SCV001190496 | likely pathogenic | Multiple gastrointestinal atresias | 2019-12-18 | criteria provided, single submitter | research | ACMG codes: PM2, PM5, PP3, PP4 |
Baylor Genetics | RCV001027861 | SCV001520482 | uncertain significance | Multiple gastrointestinal atresias | 2019-12-16 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV001759925 | SCV001999639 | uncertain significance | not provided | 2019-11-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; A different missense variant at this residue (A832T) was reported in published literature in the homozygous state in two siblings with apoptotic enterocolitis (Avitzur et al., 2014); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |