Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000755709 | SCV000883168 | uncertain significance | Spondylometaphyseal dysplasia - Sutcliffe type | 2018-10-15 | criteria provided, single submitter | curation | This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Spondylometaphyseal dysplasia, corner fracture type, autosomal dominant. The following ACMG Tag(s) were applied: PM6 => Assumed de novo, but without confirmation of paternity and maternity (https://www.ncbi.nlm.nih.gov/pubmed/29100092). PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. |
CHU Sainte- |
RCV000509584 | SCV000574558 | likely pathogenic | Spondylometaphyseal dysplasia | 2017-02-25 | no assertion criteria provided | research | 6 Individuals with novel FN1 mutations and spondylometaphyseal dysplasia |
Gene |
RCV000755709 | SCV001364088 | not provided | Spondylometaphyseal dysplasia - Sutcliffe type | no assertion provided | literature only |