Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV000660577 | SCV000782689 | uncertain significance | not provided | 2017-05-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660577 | SCV001054699 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001253775 | SCV001429648 | pathogenic | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | 2020-08-13 | no assertion criteria provided | literature only |