Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000174675 | SCV000226018 | pathogenic | not provided | 2012-10-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000668115 | SCV000792666 | likely pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2017-07-07 | criteria provided, single submitter | clinical testing |