ClinVar Genomic variation as it relates to human health
NM_032608.7(MYO18B):c.4792C>T (p.Arg1598Ter)
Germline
Classification
(2)
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 | |
MYO18B-AS1 | - | - | - | GRCh38 | - | 129 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 28, 2022 | RCV002647177.2 | |
Pathogenic (1) |
|
Mar 25, 2024 | RCV004526967.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024