Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000032976 | SCV001426215 | likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 4 | 2020-07-22 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for Ventricular tachycardia, catecholaminergic polymorphic, 4, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1 upgraded to moderate); Well-established functional studies show a deleterious effect (PS3 downgraded to moderate). |
OMIM | RCV000032976 | SCV000056751 | pathogenic | Catecholaminergic polymorphic ventricular tachycardia 4 | 2012-10-05 | no assertion criteria provided | literature only | |
Gene |
RCV000032976 | SCV000147939 | not provided | Catecholaminergic polymorphic ventricular tachycardia 4 | no assertion provided | literature only | ||
Nyegaard lab; Aarhus University | RCV000032976 | SCV000187713 | pathogenic | Catecholaminergic polymorphic ventricular tachycardia 4 | 2012-07-23 | no assertion criteria provided | research | |
Blueprint Genetics | RCV000157133 | SCV000206856 | likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1 | 2014-05-05 | no assertion criteria provided | clinical testing |