ClinVar Genomic variation as it relates to human health
NM_004963.4(GUCY2C):c.784C>T (p.Arg262Ter)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Likely pathogenic(1); Uncertain significance(2)
Likely pathogenic(1); Uncertain significance(2)
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 | |||
GUCY2C | No evidence available | No evidence available |
GRCh38 GRCh37 |
326 | 748 | |
GUCY2C-AS1 | - | - | - | GRCh38 | - | 307 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (2) |
|
Mar 16, 2023 | RCV002639011.5 | |
Likely pathogenic (1) |
|
Mar 26, 2024 | RCV003989778.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024