Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518358 | SCV000615129 | uncertain significance | not specified | 2016-12-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765524 | SCV000896838 | uncertain significance | Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001203277 | SCV001374433 | likely benign | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2023-09-28 | criteria provided, single submitter | clinical testing |