Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673840 | SCV000799088 | likely pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2018-04-05 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000731323 | SCV000859125 | pathogenic | not provided | 2018-01-15 | criteria provided, single submitter | clinical testing |