Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000604112 | SCV000723331 | likely benign | not specified | 2017-09-27 | 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. |
Athena Diagnostics Inc | RCV000992909 | SCV001145498 | benign | not provided | 2019-02-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001446569 | SCV001649618 | likely benign | Hyperkalemic periodic paralysis | 2023-12-17 | criteria provided, single submitter | clinical testing |