Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543602 | SCV000653698 | likely benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000602152 | SCV000726027 | likely benign | not specified | 2017-12-27 | 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. |
Ce |
RCV001172223 | SCV001335217 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | CACNA1S: BP4, BP7 |
Fulgent Genetics, |
RCV002506367 | SCV002807805 | likely benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 | 2021-12-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451209 | SCV004177622 | benign | Malignant hyperthermia, susceptibility to, 5 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451210 | SCV004177623 | benign | Thyrotoxic periodic paralysis, susceptibility to, 1 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003458462 | SCV004177624 | benign | Congenital myopathy 18 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003451208 | SCV004177626 | benign | Hypokalemic periodic paralysis, type 1 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935510 | SCV004752829 | likely benign | CACNA1S-related condition | 2024-01-30 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
All of Us Research Program, |
RCV003451209 | SCV004823275 | likely benign | Malignant hyperthermia, susceptibility to, 5 | 2024-02-05 | criteria provided, single submitter | clinical testing |