Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671256 | SCV000796213 | likely pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2017-12-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000032314 | SCV000055958 | not provided | Mucolipidosis type II | no assertion provided | literature only |