Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002228170 | SCV000936064 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001553305 | SCV001774153 | uncertain significance | not provided | 2023-10-10 | 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 |
Fulgent Genetics, |
RCV002504981 | SCV002815405 | uncertain significance | Ehlers-Danlos syndrome, classic type, 2 | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001553305 | SCV004225961 | uncertain significance | not provided | 2023-04-05 | criteria provided, single submitter | clinical testing | BS1 |