Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002468962 | SCV002765661 | likely pathogenic | not provided | 2022-06-17 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a gain-of-function effect: constitutively activated cAMP cascade (Holzapfel et al., 1997); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 9360555, 11012571, 16513835, 10482366, 19636218, 15163335) |
OMIM | RCV000006820 | SCV000027016 | pathogenic | Familial hyperthyroidism due to mutations in TSH receptor | 1997-11-01 | no assertion criteria provided | literature only |