Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hadassah Hebrew University Medical Center | RCV001526669 | SCV001733594 | likely pathogenic | lethal neurodevelopmental disorder | criteria provided, single submitter | clinical testing | ||
OMIM | RCV002468258 | SCV002758778 | uncertain significance | not provided | 2022-12-06 | no assertion criteria provided | literature only |