Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pediatrics, |
RCV000791247 | SCV000925970 | benign | Glycogen storage disease, type II | 2019-07-10 | no assertion criteria provided | clinical testing | This variant is considered benign based on prediction by multiple in silico algorithms (SIFT, Polyphen-2, PredictSNP2, CADD, DANN, FATHMM, and FunSeq2). |