Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000570760 | SCV000883165 | likely pathogenic | Spondylometaphyseal dysplasia - Sutcliffe type | 2018-10-15 | criteria provided, single submitter | curation | This variant is interpreted as Likely Pathogenic, for Spondylometaphyseal dysplasia, corner fracture type, autosomal dominant. 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. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/29100092). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3-Moderate => PS3 downgraded in strength to Moderate (https://www.ncbi.nlm.nih.gov/pubmed/29100092). |
CHU Sainte- |
RCV000509587 | SCV000574556 | likely pathogenic | Spondylometaphyseal dysplasia | 2017-02-25 | no assertion criteria provided | research | 6 Individuals with novel FN1 mutations and spondylometaphyseal dysplasia |
OMIM | RCV000570760 | SCV000676922 | pathogenic | Spondylometaphyseal dysplasia - Sutcliffe type | 2017-12-28 | no assertion criteria provided | literature only | |
Gene |
RCV000570760 | SCV001364087 | not provided | Spondylometaphyseal dysplasia - Sutcliffe type | no assertion provided | literature only |