Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000675686 | SCV000227122 | pathogenic | not provided | 2013-08-30 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000671504 | SCV000796486 | likely pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Genetic Testing Laboratories, |
RCV000675686 | SCV000801395 | pathogenic | not provided | 2017-11-13 | no assertion criteria provided | clinical testing |