Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pathology and Clinical Laboratory Medicine, |
RCV000492011 | SCV002073811 | pathogenic | Metachromatic leukodystrophy | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000003224 | SCV000023382 | pathogenic | Metachromatic leukodystrophy, severe | 1993-12-01 | no assertion criteria provided | literature only | |
Lupski Lab, |
RCV000492011 | SCV000282194 | pathogenic | Metachromatic leukodystrophy | 2016-01-10 | no assertion criteria provided | research |