Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000714510 | SCV000996451 | likely pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 2019-02-20 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Intellectual developmental disorder with macrocephaly, seizures, and speech delay, autosomal dominant. The following ACMG Tag(s) were applied: PM2, PP3, PM6, PS3. |
OMIM | RCV000714510 | SCV000845200 | pathogenic | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 2018-10-31 | no assertion criteria provided | literature only | |
Genetics and Genomic Medicine Centre, |
RCV004569406 | SCV004175135 | pathogenic | not provided | 2021-02-01 | no assertion criteria provided | clinical testing |