Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001205001 | SCV001376236 | likely benign | Bethlem myopathy 1A | 2023-06-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001760167 | SCV001999566 | uncertain significance | not provided | 2022-10-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV001760167 | SCV003833769 | uncertain significance | not provided | 2020-07-21 | criteria provided, single submitter | clinical testing |