ClinVar Genomic variation as it relates to human health
NM_023936.2(MRPS34):c.289C>T (p.Leu97Phe)
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 | |||
EME2 | - | - |
GRCh38 GRCh37 |
5 | 139 | |
LOC130058183 | - | - | - | GRCh38 | - | 33 |
MRPS34 | - | - |
GRCh38 GRCh37 |
43 | 156 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 22, 2023 | RCV003329196.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023