Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kasturba Medical College, |
RCV003128102 | SCV003804265 | pathogenic | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | 2023-01-23 | criteria provided, single submitter | clinical testing |