Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000210399 | SCV000258433 | likely pathogenic | Cerebral visual impairment and intellectual disability | 2015-09-09 | criteria provided, single submitter | research | This study shows that diverse genetic causes underlie CVI. |
Institute of Human Genetics, |
RCV001004848 | SCV002044321 | pathogenic | Intellectual developmental disorder 62 | 2021-12-21 | criteria provided, single submitter | research | |
Tumer Group, |
RCV001004848 | SCV003915477 | pathogenic | Intellectual developmental disorder 62 | 2023-02-28 | criteria provided, single submitter | research | |
OMIM | RCV001004848 | SCV001164324 | pathogenic | Intellectual developmental disorder 62 | 2020-12-11 | no assertion criteria provided | literature only |