Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000055795 | SCV004207467 | pathogenic | Familial isolated deficiency of vitamin E | 2023-10-31 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000009708 | SCV000029926 | pathogenic | Ataxia and retinitis pigmentosa with isolated vitamin E deficiency | 1996-12-05 | no assertion criteria provided | literature only | |
Gene |
RCV000055795 | SCV000086764 | not provided | Familial isolated deficiency of vitamin E | no assertion provided | literature only |