ClinVar Genomic variation as it relates to human health
NC_000020.10:g.(?_3190178)_(3604448_?)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 | |||
ATRN | - | - |
GRCh38 GRCh37 |
293 | 382 | |
DNAAF9 | - | - |
GRCh38 GRCh37 |
4 | 53 | |
ITPA | - | - |
GRCh38 GRCh37 |
273 | 366 | |
SLC4A11 | - | - |
GRCh38 GRCh37 |
1076 | 1127 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 19, 2019 | RCV000809307.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024