Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003151707 | SCV003840790 | uncertain significance | not provided | 2022-09-08 | criteria provided, single submitter | clinical testing | Identified in the heterozygous state in patients in the literature who had subclinical hypothyroidism, had autoimmune thyroiditis, or were unaffected (Russo et al., 2000; Nicoletti et al., 2009); Published functional studies demonstrate a damaging effect as the R310C variant reduces binding capacity and shows an inability to increase cAMP levels when stimulated (Russo et al., 2000; Mueller et al., 2009); This variant is associated with the following publications: (PMID: 24728327, 12933653, 20846293, 24845969, 19819720, 19583488, 11095460, 15466939, 34200080, 23154162, 15231707, 26229975, 19820021) |
OMIM | RCV000006827 | SCV000027023 | pathogenic | Hypothyroidism due to TSH receptor mutations | 2000-11-01 | no assertion criteria provided | literature only | |
ITMI | RCV000122250 | SCV000086474 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |