Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Genomic Statistics and Bioinformatics, |
RCV001260912 | SCV001437680 | likely pathogenic | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | criteria provided, single submitter | clinical testing | PVS1, PM2 | |
3billion | RCV001775162 | SCV002012248 | pathogenic | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 2021-10-02 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): predicted to 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: VCV000981478.1). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |