Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV001095800 | SCV001468557 | likely pathogenic | Congenital disorder of glycosylation, type iit | 2020-12-18 | criteria provided, single submitter | curation | This variant is interpreted as Likely pathogenic for Congenital disorder of glycosylation 2T, autosomal recessive. 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); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Well-established functional studies show a deleterious effect (PS3). |
OMIM | RCV001095800 | SCV001251643 | pathogenic | Congenital disorder of glycosylation, type iit | 2020-05-20 | no assertion criteria provided | literature only |