Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001197894 | SCV001368677 | uncertain significance | See cases | 2019-01-29 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3. |
OMIM | RCV003493816 | SCV004242303 | pathogenic | Intellectual developmental disorder, autosomal recessive 81 | 2024-02-02 | no assertion criteria provided | literature only |