The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Curation History

Showing 1 to 2 of 2 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_002709.3(PPP1CB):c.27C>T (p.Asp9=)
Benign
RASopathy2024-10-01
1.1
ClinGen RASopathy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PPP1CB Version 1.1.0PPP1CB
View NM_002709.3(PPP1CB):c.27C>T (p.Asp9=)
Benign
RASopathy2024-09-26
1.0
-PPP1CB
Showing 1 to 2 of 2 rows
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.