Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002233656 | SCV000826924 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2022-07-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003324788 | SCV004030579 | uncertain significance | not provided | 2023-02-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD); This variant is associated with the following publications: (PMID: 22696272) |
New York Genome Center | RCV002233656 | SCV004176066 | uncertain significance | Ehlers-Danlos syndrome, classic type, 1 | 2023-07-17 | criteria provided, single submitter | clinical testing |