ClinVar Genomic variation as it relates to human health
NM_016553.5(NUP62):c.965C>T (p.Ala322Val)
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 | |||
IL4I1 | - | - |
GRCh38 GRCh37 |
34 | 227 | |
NUP62 | - | - |
GRCh38 GRCh37 |
- | 193 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 6, 2023 | RCV002800359.10 | |
Likely benign (1) |
|
Mar 23, 2022 | RCV004064702.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024