Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730061 | SCV000857770 | uncertain significance | not provided | 2017-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001443304 | SCV001646273 | likely benign | Glycogen storage disease, type II | 2023-03-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001443304 | SCV001810603 | uncertain significance | Glycogen storage disease, type II | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002388362 | SCV002702969 | likely benign | Cardiovascular phenotype | 2019-10-20 | 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. |