Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV001255840 | SCV002012108 | pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 2021-10-02 | criteria provided, single submitter | clinical testing | Frameshift: 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: VCV000977910.2). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Service de Génétique Moléculaire, |
RCV001255840 | SCV001432464 | likely pathogenic | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | no assertion criteria provided | clinical testing | ||
Centre de Biologie Pathologie Génétique, |
RCV001527631 | SCV001738742 | pathogenic | Microcephaly and chorioretinopathy 1 | 2020-01-01 | no assertion criteria provided | clinical testing |