Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659474 | SCV000781289 | uncertain significance | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000659474 | SCV000895375 | uncertain significance | Connective tissue disorder | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001756115 | SCV001995479 | uncertain significance | not provided | 2019-09-09 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 547287; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
Invitae | RCV001868175 | SCV002300100 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2022-12-05 | criteria provided, single submitter | clinical testing |