Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000207469 | SCV000266517 | likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2016-01-07 | criteria provided, single submitter | research | |
OMIM | RCV000207469 | SCV000262740 | pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 2018-04-09 | no assertion criteria provided | literature only |