Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878953 | SCV001021946 | likely benign | Bethlem myopathy 1 | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003159168 | SCV003852933 | uncertain significance | not provided | 2023-03-14 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |