Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000503128 | SCV000590940 | likely pathogenic | 3-Methylglutaconic aciduria type 2 | 2017-08-21 | no assertion criteria provided | clinical testing | This variant has not been reported in 1000 Genomes and ExAC databases. The in silico prediction of this variant is damaging by MutationTaster2. |