ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_93593089)_(93772107_?)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 | |||
ARL13B | - | - |
GRCh38 GRCh37 |
333 | 382 | |
PROS1 | - | - |
GRCh38 GRCh37 |
495 | 524 | |
STX19 | - | - | - |
GRCh38 GRCh37 |
- | 44 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 16, 2021 | RCV003110992.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024