Variant Interpretation Criterion Scoring Rules Value Set

This is the description of how the weighting of the satisfied criterion are typically evaluated to arrive at a specific clinical significance.

SEPIO-CG:65133

Summary

IRI
SEPIO-CG:65133
Name
Variant Interpretation Criterion Scoring Rules Value Set
Description
This is the description of how the weighting of the satisfied criterion are typically evaluated to arrive at a specific clinical significance.

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.

IRI Label Description
CGEX:AssertMethScoringAlgorithm001 ACMG ISV 2015 combining/scoring algorithm