ClinVar Genomic variation as it relates to human health
NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer)
Germline
Classification
(3)
Pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
RPL11 | - | - |
GRCh38 GRCh37 |
155 | 188 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (2) |
|
Jun 17, 2022 | RCV002287313.4 | |
Pathogenic (1) |
|
Jan 3, 2023 | RCV002509827.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024