Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494429 | SCV000583041 | likely pathogenic | not provided | 2023-01-06 | 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 supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22696272) |
Labcorp Genetics |
RCV002231630 | SCV000813461 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-09-01 | criteria provided, single submitter | clinical testing | |
Ai |
RCV000494429 | SCV002502552 | uncertain significance | not provided | 2021-11-02 | criteria provided, single submitter | clinical testing |