Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000371750 | SCV000338887 | uncertain significance | not provided | 2016-01-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001088707 | SCV001020295 | likely benign | Glycogen storage disease, type II | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001088707 | SCV001810194 | uncertain significance | Glycogen storage disease, type II | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004021184 | SCV005032759 | likely benign | Cardiovascular phenotype | 2023-11-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Natera, |
RCV001088707 | SCV002092138 | likely benign | Glycogen storage disease, type II | 2020-09-23 | no assertion criteria provided | clinical testing |