Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000490986 | SCV000492517 | likely pathogenic | Epilepsy; Dysmorphic features; Intellectual disability | 2017-01-09 | criteria provided, single submitter | research | This missense variant was found in one family, homozygous in 3 affected siblings: 20yo male with moderate intellectual disability, epilepsy, dysmorphic features, arachnodactyly; 16yo male with mild intellectual disability, epilepsy, dysmorphic features, hyperextensibility; 14yo female with moderate intellectual disability, epilepsy, dysmorphic features, arachnodactyly, hyperexensibility. |
OMIM | RCV000487494 | SCV000574731 | pathogenic | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 2017-05-03 | no assertion criteria provided | literature only |