Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002273366 | SCV002558070 | uncertain significance | not provided | 2022-07-25 | criteria provided, single submitter | clinical testing | Located in the 5 untranslated region (UTR); in the absence of functional studies, the actual effect of this sequence change is unknown; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; No regulatory variants in the TGFBR1 gene have been reported in HGMD in association with TGFBR1-related disorders (HGMD) |
Genome Diagnostics Laboratory, |
RCV002277102 | SCV002566144 | uncertain significance | Ehlers-Danlos syndrome | 2019-11-01 | criteria provided, single submitter | clinical testing |