Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670984 | SCV000795916 | uncertain significance | 3-Methylglutaconic aciduria type 3 | 2017-11-30 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000670984 | SCV001369689 | uncertain significance | 3-Methylglutaconic aciduria type 3 | 2019-12-11 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2. |