Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001533051 | SCV001748871 | pathogenic | ACTL6B-related BAFopathy | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001815492 | SCV002062767 | uncertain significance | not provided | 2021-12-01 | criteria provided, single submitter | clinical testing | |
3billion | RCV002051910 | SCV002318473 | pathogenic | Developmental and epileptic encephalopathy, 76 | 2022-03-22 | 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.It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency:0.0000247 ).This variant has been reported as pathogenic (ClinVar ID: VCV000828180, PMID:31031012). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
CHU Sainte- |
RCV001028077 | SCV001190860 | likely pathogenic | ACTL6B-related recessive epilepsy | 2019-03-01 | no assertion criteria provided | research |