ClinVar Genomic variation as it relates to human health
NM_006312.6(NCOR2):c.6001C>T (p.Pro2001Ser)
Germline
Classification
(1)
Benign
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
NCOR2 | - | - |
GRCh38 GRCh37 |
342 | 369 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
NCOR2-related disorder
|
Benign (1) |
|
Feb 20, 2019 | RCV003976690.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024