ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_150885126)_(151304110_?)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 | |||
ATOX1 | - | - |
GRCh38 GRCh37 |
4 | 18 | |
FAT2 | - | - |
GRCh38 GRCh37 |
290 | 1090 | |
G3BP1 | - | - |
GRCh38 GRCh37 |
14 | 28 | |
GLRA1 | - | - |
GRCh38 GRCh37 |
497 | 514 | |
SPARC | - | - |
GRCh38 GRCh37 |
156 | 212 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 16, 2022 | RCV003113208.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024