Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667601 | SCV000792079 | uncertain significance | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2017-06-21 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000000992 | SCV000021142 | pathogenic | Mucopolysaccharidosis, MPS-IV-B | 2001-08-01 | no assertion criteria provided | literature only |