ClinVar Genomic variation as it relates to human health
NM_032608.7(MYO18B):c.6825G>A (p.Trp2275Ter)
Germline
Classification
(3)
Pathogenic/Likely pathogenic
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 | |||
MYO18B | - | - |
GRCh38 GRCh37 |
1923 | 2068 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (2) |
|
Feb 14, 2023 | RCV003236235.3 | |
Pathogenic (1) |
|
Jul 27, 2023 | RCV003779856.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024