ClinVar Genomic variation as it relates to human health
NM_138927.4(SON):c.1002_5016del (p.Glu335fs)
Germline
Classification
(1)
Likely pathogenic
no assertion criteria provided
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 | |||
SON | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1304 | 1388 | |
MIR6501 | - | - | - | GRCh38 | - | 47 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Sep 1, 2016 | RCV000755178.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022