Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000838576 | SCV000980446 | likely benign | not provided | 2021-06-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086605 | SCV001019483 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001086605 | SCV001523967 | uncertain significance | Ehlers-Danlos syndrome, dermatosparaxis type | 2019-08-16 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Natera, |
RCV001086605 | SCV002084235 | likely benign | Ehlers-Danlos syndrome, dermatosparaxis type | 2019-11-11 | no assertion criteria provided | clinical testing |