Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000488966 | SCV000577512 | uncertain significance | not provided | 2022-01-14 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000488966 | SCV002499229 | uncertain significance | not provided | 2022-01-27 | criteria provided, single submitter | clinical testing | PM2, PP2 |
Invitae | RCV000488966 | SCV003019228 | likely benign | not provided | 2023-07-16 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000488966 | SCV003823192 | uncertain significance | not provided | 2022-11-21 | criteria provided, single submitter | clinical testing |