ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.33(chr19:50071364-50165942)x1
Germline
Classification
(1)
Likely pathogenic
no assertion criteria provided
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 | |||
IRF3 | - | - |
GRCh38 GRCh37 |
54 | 68 | |
NOSIP | - | - |
GRCh38 GRCh37 |
14 | 27 | |
PRR12 | - | - |
GRCh38 GRCh37 |
418 | 434 | |
PRRG2 | - | - |
GRCh38 GRCh37 |
15 | 30 | |
RRAS | - | - |
GRCh38 GRCh37 |
281 | 295 | |
SCAF1 | - | - |
GRCh38 GRCh37 |
107 | 121 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
May 3, 2021 | RCV001581100.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 02, 2023