ClinVar Genomic variation as it relates to human health
NC_000015.10:g.(?_66703239)_(67190556_?)del
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 |
977 | 1034 | |
LOC110120917 | - | - | - | GRCh38 | - | 3 |
LOC111365216 | - | - | - | GRCh38 | - | 2 |
LOC111413015 | - | - | - | GRCh38 | - | 3 |
LOC111413043 | - | - | - | GRCh38 | - | 3 |
LOC121530586 | - | - | - | GRCh38 | - | 2 |
LOC121847954 | - | - | - | GRCh38 | - | 3 |
LOC125110346 | - | - | - | GRCh38 | - | 3 |
LOC125110347 | - | - | - | GRCh38 | - | 3 |
LOC125110348 | - | - | - | GRCh38 | - | 2 |
There are 25 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 1, 2018 | RCV000813979.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023