ClinVar Genomic variation as it relates to human health
NM_004289.7(NFE2L3):c.1418G>C (p.Ser473Thr)
Germline
Classification
(1)
Benign
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 | |||
HNRNPA2B1 | - | - |
GRCh38 GRCh37 |
311 | 347 | |
NFE2L3 | - | - |
GRCh38 GRCh37 |
65 | 107 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
May 1, 2022 | RCV003436687.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024