Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000319642 | SCV000345733 | uncertain significance | not provided | 2016-09-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085893 | SCV000831955 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000319642 | SCV000983612 | likely benign | not provided | 2021-09-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003949958 | SCV004764069 | likely benign | ADAMTS2-related disorder | 2024-02-09 | 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, |
RCV001085893 | SCV001463011 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2020-04-20 | no assertion criteria provided | clinical testing |