ClinVar Genomic variation as it relates to human health
NM_005035.4(POLRMT):c.3666G>A (p.Val1222=)
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 | |||
POLRMT | - | - |
GRCh38 GRCh37 |
210 | 249 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
POLRMT-related disorder
|
Uncertain significance (1) |
|
Sep 21, 2023 | RCV003402519.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024