ClinVar Genomic variation as it relates to human health
NM_005902.4(SMAD3):c.30G>T (p.Pro10=)
Germline
Classification
(4)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(3)
Uncertain significance(1); Likely benign(3)
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 | |||
SMAD3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1022 | 1085 | |
LOC130057352 | - | - | - | GRCh38 | - | 44 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (2) |
|
Nov 24, 2023 | RCV002325970.3 | |
Conflicting interpretations of pathogenicity (2) |
|
Nov 2, 2023 | RCV003641011.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 20, 2024