GenCC is like #ClinVar - but for gene disease correlations. Including 16911 submitted classification (ranging from strong to no disease link) on 4704 genes!

The GenCC database at https://search.thegencc.org/ allows you to view Gene Classifications by the strength of their classification, by disease, and by submitter!

RT @HeidiRehm@twitter.com

I've been delighted to watch the evolution of Australia's Shariant platform which enables variant evidence sharing across Australian clinical genetic testing labs and supports submission to #ClinVar. Way to go AU and congrats on the paper!! https://www.cell.com/ajhg/fulltext/S0002-9297(22)00454-2#.Y2QkVNG1vd8.twitter

🐦🔗: https://twitter.com/HeidiRehm/status/1588268650947133441

Does anybody know of any well characterized serine or threonine phosphomimetic (change to Asp or Glu) missense variants in #ClinVar ? I took a first pass to match against known phosphosites in humans but didn't come up with much.

#genetics #NCBI #signaling

I haven’t found a paywall free version of this news yet, but looks like #Myriad is going to submit all their variants to #ClinVar. Data sharing is critical for genetic testing! https://www.precisiononcologynews.com/molecular-diagnostics/myriad-genetics-submit-hereditary-cancer-risk-variants-clinvar-2023#.Y2L8FvdlC_Y #variantinterpretation #cancer