Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000678678 | SCV000804318 | pathogenic | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2018-09-05 | no assertion criteria provided | clinical testing | The observed variant c.388_400delATGGTCACATCTA has not been reported in 1000 Genomes and ExAC databases. The in silico prediction of the given variant is damaging by MutationTaster2. |