ClinVar Genomic variation as it relates to human health
NM_000543.5(SMPD1):c.319-2A>G
Germline
Classification
(2)
Likely pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
SMPD1 | - | - |
GRCh38 GRCh37 |
998 | 1067 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 3, 2022 | RCV002975493.3 | |
Likely pathogenic (1) |
|
May 4, 2023 | RCV003465876.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024