Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001081948 | SCV000655313 | likely benign | Polyglucosan body myopathy type 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000560733 | SCV001153406 | uncertain significance | not provided | 2017-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000560733 | SCV001985680 | uncertain significance | not provided | 2020-09-15 | 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 |