Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000646238 | SCV000768001 | benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001566944 | SCV001790535 | uncertain significance | not provided | 2020-09-08 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Prevention |
RCV003965371 | SCV004784840 | likely benign | ADAMTS2-related disorder | 2023-05-23 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV000646238 | SCV001463000 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2020-06-04 | no assertion criteria provided | clinical testing |