Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673250 | SCV000798432 | likely benign | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673250 | SCV001042985 | likely benign | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002462011 | SCV002755601 | likely benign | Inborn genetic diseases | 2022-09-19 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV000673250 | SCV002809000 | likely benign | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 2022-04-26 | criteria provided, single submitter | clinical testing |