Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666126 | SCV000790370 | uncertain significance | Galactosylceramide beta-galactosidase deficiency | 2017-03-16 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV003480753 | SCV004223956 | likely pathogenic | not provided | 2023-06-09 | criteria provided, single submitter | clinical testing | PM2, PM5, PS3_moderate |