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New ClinVar classifications that will split CLINSIG into 3 separate classifications. #1093

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tonydisera opened this issue Aug 14, 2024 · 0 comments

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@tonydisera
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See https://github.com/ncbi/clinvar/blob/master/ClassificationOnClinVar.md

Classification on ClinVar aggregate records (VCV and RCV)
Note: We are moving away from the terms "clinical significance" and "interpretation" in favor of the term "classification". This change is to clarify that data in ClinVar should represent variant-level classifications for a disease, rather than an interpretation of the clinical significance of a variant for a specific patient.

ClinVar currently has a single field for "clinical significance". With the release of somatic classifications, we will have three types of classifications:

"clinical significance" will be renamed "Germline classification"
we will add a classification for "Somatic clinical impact", based on the AMP/ASCO/CAP Tiers (PMID 27993330)
we will add a classification for "Oncogenicity", based on the ClinGen/CGC/VICC recommendation (PMID 36063163)

I'm not sure how this will impact us. We will need to look into this. It looks like the change occurred in Jan 2024 for VCV and RCV records. I am not sure if and when the change will occur on the ClinVar vcf file.

(See related issued #1075.)

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