ClinVar Genomic variation as it relates to human health
NM_001256054.2(C9orf72):c.-45+163_-45+180GGGGCC(2_25)
Germline
Classification
(1)
Benign
no assertion criteria provided
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 | |||
C9orf72 | - | - |
GRCh38 GRCh37 |
95 | 177 | |
LOC109504728 | - | - | - | GRCh38 | - | 37 |
LOC129929032 | - | - | - | GRCh38 | - | 37 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Oct 16, 2014 | RCV000192064.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023