ClinVar Genomic variation as it relates to human health
NC_000010.10:g.(?_104262628)_(104595248_?)dup
Germline
Classification
(1)
Uncertain significance
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 | |||
ARL3 | - | - |
GRCh38 GRCh37 |
130 | 152 | |
CYP17A1 | - | - |
GRCh38 GRCh37 |
417 | 541 | |
SFXN2 | - | - |
GRCh38 GRCh37 |
25 | 48 | |
SUFU | - | - |
GRCh38 GRCh37 |
1286 | 1512 | |
TRIM8 | - | - |
GRCh38 GRCh37 |
300 | 338 | |
WBP1L | - | - |
GRCh38 GRCh37 |
13 | 39 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 17, 2021 | RCV002010559.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024