ClinVar Genomic variation as it relates to human health
NM_016169.4(SUFU):c.103C>T (p.His35Tyr)
Germline
Classification
(4)
Uncertain significance
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 | - | 166 |
SUFU | - | - |
GRCh38 GRCh37 |
1329 | 1513 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 4, 2023 | RCV003095227.2 | |
Uncertain significance (1) |
|
Jan 5, 2023 | RCV003313277.1 | |
Uncertain significance (1) |
|
Jul 7, 2022 | RCV002389605.2 | |
Uncertain significance (1) |
|
Jun 28, 2023 | RCV003464518.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024