Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Clinical Genetics, |
RCV003321817 | SCV004026488 | likely pathogenic | not provided | 2021-12-08 | criteria provided, single submitter | clinical testing | PM1, PS4_MOD, PP3, PP2, PM2_SUP |
Department of Genetics, |
RCV001264711 | SCV001442894 | likely pathogenic | Neurodevelopmental abnormality | 2020-06-04 | no assertion criteria provided | clinical testing | |
OMIM | RCV003155383 | SCV003844055 | pathogenic | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 2012-11-10 | no assertion criteria provided | literature only |