ClinVar Genomic variation as it relates to human health
NG_050658.1:g.(5235_69181)_(69440_100126)del
Germline
Classification
(1)
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 | |||
WARS2 | - | - |
GRCh38 GRCh37 |
126 | 165 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 17, 2022 | RCV001837433.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 01, 2023
NCBI staff provided an HGVS expression for allelic variant 604733.0011 based on the annotation of exon 2 on the RefSeqGene NG_050658.1.