ClinVar Genomic variation as it relates to human health
NM_001031628.2(SMAGP):c.249G>C (p.Glu83Asp)
Germline
Classification
(1)
Uncertain significance
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 | |||
DAZAP2 | - | - |
GRCh38 GRCh37 |
12 | 23 | |
SMAGP | - | - | - |
GRCh38 GRCh37 |
3 | 14 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 21, 2022 | RCV004198581.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024