Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000850578 | SCV000992799 | uncertain significance | Intellectual disability | 2017-12-31 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000787323 | SCV000926253 | pathogenic | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | 2019-07-12 | no assertion criteria provided | literature only |