Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001209812 | SCV001381262 | likely benign | Adams-Oliver syndrome 5 | 2025-01-14 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV004792800 | SCV005410915 | uncertain significance | not provided | 2024-07-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004792800 | SCV006075607 | uncertain significance | not provided | 2024-11-05 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29416628, 31184605) |