Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000760301 | SCV000996429 | likely pathogenic | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | 2019-07-15 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Neurodevelopmental disorder and language delay with or without structural brain abnormalities, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PM6, PS3. |
OMIM | RCV000760301 | SCV000890151 | pathogenic | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | 2023-11-10 | no assertion criteria provided | literature only |