ClinVar Genomic variation as it relates to human health
NM_005585.5(SMAD6):c.43C>T (p.Arg15Ter)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(2)
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 | |||
SMAD6 | - | - |
GRCh38 GRCh37 |
908 | 923 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (2) |
|
Sep 2, 2022 | RCV003041240.5 | |
Pathogenic (1) |
|
Jan 6, 2023 | RCV003235760.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024