Variant Interpretation Guideline Value Set

Summary

IRI

SEPIO-CG:65132

Name

Variant Interpretation Guideline Value Set

Description

The assertion method guidelines for variant pathogenicity interpretation. ACMG-AMP IVS guidelines 2015 is a typical case, but there may be alternative or derivative guidelines as well.

Included Codes

This value set includes codes from the following identifier systems:

• Include any concept from http://purl.obolibrary.org/obo/sepio-clingen# ( ClinGen extensions to SEPIO )

Expansion

This value set is extensible and therefore can be extended to include concepts from the listed identifier systems by adding on the fly concepts defined by a sending system if no viable option from any of the identifier systems is acceptable.

This value set contains 1 concepts.