ClinVar Genomic variation as it relates to human health
NM_005035.4(POLRMT):c.3690C>T (p.Ser1230=)
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
POLRMT | - | - |
GRCh38 GRCh37 |
214 | 253 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
POLRMT-related disorder
|
Likely benign (1) |
|
Dec 28, 2022 | RCV003893622.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024