ClinVar Genomic variation as it relates to human health
NM_017951.5(SMPD4):c.2242_2260del (p.Ser748fs)
Germline
Classification
(1)
Likely 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 | |||
SMPD4 | - | - |
GRCh38 GRCh38 GRCh37 |
151 | 192 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV003986027.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 17, 2024