Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000626074 | SCV000746698 | pathogenic | Mucopolysaccharidosis, MPS-IV-B | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763097 | SCV000893639 | likely pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2018-10-31 | criteria provided, single submitter | clinical testing |