ClinVar Genomic variation as it relates to human health
NM_016065.4(MRPS16):c.270T>G (p.Leu90=)
Germline
Classification
(2)
Likely benign
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 | |||
DNAJC9-AS1 | - | - | - | GRCh38 | - | 99 |
MRPS16 | - | - |
GRCh38 GRCh37 |
3 | 106 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 12, 2024 | RCV002958968.2 | |
MRPS16-related disorder
|
Likely benign (1) |
|
Sep 13, 2019 | RCV003926611.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024