Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001266209 | SCV001444381 | likely pathogenic | Inborn genetic diseases | 2018-08-27 | criteria provided, single submitter | clinical testing | |
Robert's Program, |
RCV001788440 | SCV002030079 | pathogenic | Sudden unexplained death in childhood | 2021-10-01 | criteria provided, single submitter | research | We classify this variant as pathogenic using the following ACMG/AMP criteria: PVS1, PS2, PM2 |
Gene |
RCV001788439 | SCV002030970 | pathogenic | not provided | 2021-12-02 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32258089, 31191201) |
3billion | RCV002283537 | SCV002573011 | pathogenic | KBG syndrome | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.67; 3Cnet: 0.96). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000985348). The variant has been previously reported as de novo in a similarly affected individual (PMID: 31191201). A different missense change at the same codon (p.Arg2512Gln) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000932137). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV002283537 | SCV002583704 | likely pathogenic | KBG syndrome | 2022-09-20 | criteria provided, single submitter | clinical testing | PS4_Supporting, PM2, PM5_Supporting, PM6, PP3 |
Revvity Omics, |
RCV002283537 | SCV003817396 | pathogenic | KBG syndrome | 2023-02-07 | criteria provided, single submitter | clinical testing | |
Dr. |
RCV002283537 | SCV003932853 | likely pathogenic | KBG syndrome | 2019-07-15 | criteria provided, single submitter | clinical testing |