ClinVar Genomic variation as it relates to human health
NM_015447.4(CAMSAP1):c.2717_2738del (p.Gln906fs)
Germline
Classification
(3)
Pathogenic/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 | |||
CAMSAP1 | - | - |
GRCh38 GRCh37 |
98 | 156 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CAMSAP1-related neuronal migration disorder
|
Likely pathogenic (1) |
|
Sep 15, 2022 | RCV003153256.1 |
Pathogenic (2) |
|
Apr 4, 2024 | RCV003164426.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024