ClinVar Genomic variation as it relates to human health
NR_029686.1(MIR145):n.18C>A
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 | |||
CARMN | - | - | - | GRCh38 | - | 5 |
MIR145 | - | - |
GRCh38 GRCh37 |
- | 16 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
MIR145-related multisystemic smooth muscle dysfunction
|
Uncertain significance (1) |
|
May 24, 2022 | RCV002280373.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 03, 2022