Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622274 | SCV000740862 | pathogenic | Inborn genetic diseases | 2015-04-14 | criteria provided, single submitter | clinical testing | |
3billion | RCV001775138 | SCV002012219 | pathogenic | Baraitser-winter syndrome 2 | 2021-10-02 | criteria provided, single submitter | clinical testing | The variant has been previously reported as de novoo in a similarly affected individual (PMID: 27240540, PS2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). It is not observed in the gnomAD v2.1.1 dataset (PM2). Missense changes are a common disease-causing mechanism (PP2).. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.844, 3Cnet: 0.988, PP3). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Centre de Biologie Pathologie Génétique, |
RCV002274075 | SCV002558904 | pathogenic | Neurodevelopmental delay | criteria provided, single submitter | clinical testing | ||
MGZ Medical Genetics Center | RCV001775138 | SCV002581592 | likely pathogenic | Baraitser-winter syndrome 2 | 2022-03-07 | criteria provided, single submitter | clinical testing |