Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome- |
RCV001840962 | SCV002100213 | benign | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003976234 | SCV004797358 | benign | TTI2-related disorder | 2019-09-24 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |