Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679905 | SCV000807336 | pathogenic | ALG12-congenital disorder of glycosylation | 2017-09-01 | criteria provided, single submitter | clinical testing | This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in trans with a deleterious missense mutation in a fetus with cystic hygroma, VSD, diaphragmatic hernia, brain malformations, and micrognathia; a previous fetus was similarly affected (not tested). |
Daryl Scott Lab, |
RCV000679905 | SCV001448620 | pathogenic | ALG12-congenital disorder of glycosylation | 2020-11-11 | criteria provided, single submitter | clinical testing |