Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV001254327 | SCV001571383 | likely pathogenic | Immunodeficiency 72 with autoinflammation | 2021-04-13 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for Immunodeficiency 72 with autoinflammation, 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); Well-established functional studies show a deleterious effect (PS3); For recessive disorders, detected in trans with a likely pathogenic/pathogenic variant (PM3 downgraded to supporting). |
OMIM | RCV001254327 | SCV001430309 | pathogenic | Immunodeficiency 72 with autoinflammation | 2023-03-15 | no assertion criteria provided | literature only |