Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000253060 | SCV000304053 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000253060 | SCV000513158 | likely benign | not specified | 2016-10-19 | 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. |
Counsyl | RCV000667352 | SCV000791786 | likely benign | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000926956 | SCV001072528 | likely benign | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2024-01-11 | criteria provided, single submitter | clinical testing |