ClinVar Genomic variation as it relates to human health
NM_001400176.1(MRPL23):c.498-15408G>A
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 | |||
H19 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2 | 89 | |
HOTS | - | - | - |
GRCh38 GRCh38 |
- | 27 |
MRPL23 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 107 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
H19-related disorder
|
Likely benign (1) |
|
Mar 20, 2019 | RCV003951482.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 17, 2024