Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003930024 | SCV004744415 | likely benign | HECW2-related condition | 2019-09-30 | 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). |
CHU Sainte- |
RCV000240078 | SCV000299176 | likely benign | Oromandibular-limb hypogenesis spectrum | 2016-08-12 | no assertion criteria provided | research |