Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000893334 | SCV001037259 | likely benign | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003930841 | SCV004738187 | likely benign | EVC-related condition | 2019-09-12 | 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, |
RCV001276221 | SCV001462214 | uncertain significance | Ellis-van Creveld syndrome | 2020-01-17 | no assertion criteria provided | clinical testing |