ClinVar Genomic variation as it relates to human health
NM_015084.3(MRPS27):c.30G>T (p.Met10Ile)
Germline
Classification
(1)
Likely benign
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 | |||
MRPS27 | - | - |
GRCh38 GRCh37 |
25 | 35 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 20, 2023 | RCV004254914.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 02, 2024