Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000174243 | SCV000225512 | pathogenic | not provided | 2013-02-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000672348 | SCV000797446 | likely pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2018-01-25 | criteria provided, single submitter | clinical testing |