Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000607253 | SCV000716178 | likely benign | not specified | 2017-02-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000938204 | SCV001084009 | likely benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2023-04-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451390 | SCV004179222 | likely benign | Malignant hyperthermia, susceptibility to, 5 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451391 | SCV004179223 | likely benign | Thyrotoxic periodic paralysis, susceptibility to, 1 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003458468 | SCV004179224 | likely benign | Congenital myopathy 18 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451389 | SCV004179226 | likely benign | Hypokalemic periodic paralysis, type 1 | 2023-04-11 | criteria provided, single submitter | clinical testing |