Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000174475 | SCV000225783 | likely pathogenic | not provided | 2013-12-10 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000668735 | SCV000793384 | uncertain significance | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2017-08-15 | criteria provided, single submitter | clinical testing |