ClinVar Genomic variation as it relates to human health
NM_031372.4(HNRNPDL):c.136G>C (p.Ala46Pro)
Germline
Classification
(2)
Uncertain significance
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 | |||
HNRNPDL | - | - |
GRCh38 GRCh37 |
388 | 430 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Mar 14, 2023 | RCV003232933.1 |
Uncertain significance (1) |
|
Mar 1, 2023 | RCV003436000.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024