Published October 1, 2025
| Version 2.1
Standard
Open
ClinGen Severe Combined Immunodeficiency Disease Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ADAVersion 2.1
Authors/Creators
- 1. The Clinical Genome Resource (ClinGen)
Contributors
Rights holder:
- 1. National Institutes of Health (NIH)
- 2. The Clinical Genome Resource (ClinGen)
Description
This is a ClinGen Criteria Specification approved by the ClinGen Clinical Domain Working Group Oversight Committee and the ClinGen Variant Curation Expert Panel Review Committee.
Usage subject to the Clinical Genome Resource's Terms of Use (https://clinicalgenome.org/docs/terms-of-use/) which employs the CC0 1.0 Universal (CC0 1.0) Public Domain Dedication.
Files
ClinGen_ACMG_Specifications_GN114_2.1.pdf
Files
(1.6 MB)
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Additional details
Related works
- Is identical to
- https://10.15.55.128/cspec/ui/svi/doc/GN114?version=2.1 (URL)
- Is new version of
- 10.5072/zenodo.526674 (DOI)
- Is version of
- https://10.15.55.128/cspec/ui/svi/doc/GN114 (URL)
Dates
- Accepted
-
2025-10-01This publication update was approved [accepted] for release on this date.