Search Results for 'clingen'

clingen published presentations and documents on DocSlides.

ClinGen Sequence Variant Interpretation Recommendation for de novo Cri

by holly

-Version 11 Working Group Pagehttps//clinicalgenom...

Case B arr [GRCh37] 11p11.2 (45904399_46480747) x 1 (

by ivy

dn. ). 5-year-old female with developmental delay;...

Case U arr [hg19] 9q31.2 (108,597,937-111,269,478) x 1

by adia

2 year-old female referred for developmental delay...

Sequence Variant Literature Search Tips and Tricks

by wilson

Jessica Mester, MS, LCGC. Disclosure. I . am an em...

ClinGen gene-disease clinical validity:

by angelina

Review of experimental evidence scoring. Biocurato...

ClinGen BioCurator WG Call:

by danya

Splice Predictors. Marcy E. Richardson. April 25, ...

ClinGen RASopathy EP Gene Curation

by morton

Biocurator Working Group Presentation. 5.10.2018. ...