ClinVar Genomic variation as it relates to human health
NM_001395413.1(POR):c.229-9C>G
Germline
Classification
(2)
Likely benign
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 | |||
POR | - | - |
GRCh38 GRCh37 |
707 | 847 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 25, 2023 | RCV002957728.2 | |
POR-related disorder
|
Likely benign (1) |
|
Feb 9, 2021 | RCV004536472.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024