Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003487003 | SCV002017145 | pathogenic | not provided | 2023-11-05 | criteria provided, single submitter | clinical testing | |
Kasturba Medical College, |
RCV001783600 | SCV002053748 | pathogenic | Lysosomal acid lipase deficiency | criteria provided, single submitter | clinical testing | ||
Suma Genomics | RCV003331202 | SCV004037482 | likely pathogenic | Wolman disease | criteria provided, single submitter | clinical testing |