Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250307 | SCV000304931 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000304590 | SCV000412149 | uncertain significance | Neuromuscular disease, congenital, with uniform type 1 fiber | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000336036 | SCV000412150 | uncertain significance | Multiminicore myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000399614 | SCV000412151 | uncertain significance | Central core myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000301431 | SCV000412152 | uncertain significance | Malignant hyperthermia of anesthesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000250307 | SCV000525565 | likely benign | not specified | 2016-03-21 | 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. |
Ce |
RCV000513035 | SCV000608896 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | RYR1: BP4 |
Labcorp Genetics |
RCV001083634 | SCV000777557 | likely benign | RYR1-related disorder | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003514335 | SCV004358071 | likely benign | Malignant hyperthermia, susceptibility to, 1 | 2022-11-08 | criteria provided, single submitter | clinical testing |