Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000487500 | SCV000575128 | pathogenic | not provided | 2020-07-01 | criteria provided, single submitter | clinical testing | |
Genetics Laboratory, |
RCV001420301 | SCV001622721 | pathogenic | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | PP5_very strong;PM2_supporting;PP2_supporting;PP3_supporting |
OMIM | RCV000850261 | SCV000992433 | pathogenic | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | 2022-11-08 | no assertion criteria provided | literature only |