ClinVar Genomic variation as it relates to human health
NM_016169.4(SUFU):c.60G>C (p.Pro20=)
Germline
Classification
(2)
Likely benign
criteria provided, multiple submitters, no conflicts
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 | |||
LOC130004614 | - | - | - | GRCh38 | - | 167 |
SUFU | - | - |
GRCh38 GRCh37 |
1371 | 1557 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 10, 2021 | RCV002360165.2 | |
Likely benign (1) |
|
Feb 1, 2023 | RCV003426397.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024