ClinVar Genomic variation as it relates to human health
NM_001400176.1(MRPL23):c.498-10144T>G
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 | 88 | |
H19-ICR | - | - |
GRCh38 GRCh38 |
1 | 33 | |
MRPL23 | - | - |
GRCh38 GRCh38 GRCh37 |
16 | 104 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
H19-related disorder
|
Likely benign (1) |
|
Apr 28, 2022 | RCV003894389.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024