ClinVar Genomic variation as it relates to human health
NM_006502.3(POLH):c.1613T>C (p.Leu538Pro)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
criteria provided, conflicting classifications
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 | |||
POLH | - | - |
GRCh38 GRCh37 |
4 | 566 | |
POLR1C | - | - |
GRCh38 GRCh37 |
183 | 2424 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 10, 2020 | RCV003135092.10 | |
Likely benign (1) |
|
Nov 28, 2023 | RCV003730403.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024