Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostic Laboratory, |
RCV001257600 | SCV001434410 | likely pathogenic | Intellectual disability | 2020-04-20 | criteria provided, single submitter | clinical testing | |
3billion | RCV001775161 | SCV002012204 | pathogenic | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2021-10-02 | criteria provided, single submitter | clinical testing | Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant has been reported as pathogenic (ClinVar ID: VCV000978841.1). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |