Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668971 | SCV000793658 | uncertain significance | Congenital disorder of glycosylation, type Ia | 2017-08-22 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000668971 | SCV001139936 | pathogenic | Congenital disorder of glycosylation, type Ia | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198788 | SCV001369783 | pathogenic | Global developmental delay; Nystagmus; Absent speech; Strabismus; Muscular hypotonia | 2020-03-30 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS2,PM2. This variant was detected in heterozygous state. |