Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003441738 | SCV004167725 | pathogenic | not provided | 2023-10-27 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect with significantly decreased adherence and motility of cells and improper F-actin dynamics (PMID: 23649928); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; This variant is associated with the following publications: (PMID: 25052316, 30733661, 23649928) |
OMIM | RCV000056289 | SCV000087459 | pathogenic | Baraitser-Winter syndrome 1 | 2013-09-01 | no assertion criteria provided | literature only | |
Department of Genetics, |
RCV000056289 | SCV000148639 | pathogenic | Baraitser-Winter syndrome 1 | 2014-04-15 | no assertion criteria provided | clinical testing |