ClinVar Genomic variation as it relates to human health
NM_018292.5(QRSL1):c.22G>C (p.Glu8Gln)
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 | |||
LOC129996910 | - | - | - | GRCh38 | - | 17 |
QRSL1 | - | - |
GRCh38 GRCh37 |
118 | 156 | |
RTN4IP1 | - | - |
GRCh38 GRCh37 |
300 | 346 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 8, 2022 | RCV002633179.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024