Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Institute Rare Disease Group, |
RCV001254682 | SCV001430739 | likely pathogenic | Corpus callosum, agenesis of | 2020-05-29 | criteria provided, single submitter | research | The heterozygous p.Asp353Asn variant in CDH2 was identified by our study in 1 individual with agenesis of corpus callosum (PMID: 31585109). Trio exome analysis showed this variant to be de novo. The variant was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PS2, PM2 (Richards 2015). |
Core Molecular Diagnostic Lab, |
RCV001007452 | SCV001142860 | pathogenic | Corpus callosum, agenesis of; Axon pathfinding, cardiac, ocular and genital defects | 2019-09-04 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV001261826 | SCV001439155 | likely pathogenic | Syndromic neurodevelopmental disorder | no assertion criteria provided | research |