Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000254460 | SCV000303635 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001697688 | SCV000532623 | benign | not provided | 2018-04-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002057339 | SCV002459536 | benign | Familial hyperkalemic periodic paralysis | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002494702 | SCV002798773 | likely benign | Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 | 2022-05-26 | criteria provided, single submitter | clinical testing |