Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000721160 | SCV000899127 | likely pathogenic | Nephrotic syndrome, type 18 | 2019-01-10 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Nephrotic syndrome 18, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS3 => Well-established functional studies show a deleterious effect (PMID:30179222). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. |
OMIM | RCV000721160 | SCV000852073 | pathogenic | Nephrotic syndrome, type 18 | 2018-11-12 | no assertion criteria provided | literature only |