Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725455 | SCV000337084 | uncertain significance | not provided | 2015-10-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000390653 | SCV000529028 | likely benign | not specified | 2016-06-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001418402 | SCV001620630 | likely benign | Glycogen storage disease, type II | 2022-01-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001418402 | SCV001810198 | likely benign | Glycogen storage disease, type II | 2021-07-22 | criteria provided, single submitter | clinical testing |