ClinVar Genomic variation as it relates to human health
NM_001395891.1(CLASP1):c.196-587G>A
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(2)
Uncertain significance(1); Likely benign(2)
criteria provided, conflicting classifications
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 | |||
CLASP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
57 | 326 | |
RNU4ATAC | - | - |
GRCh38 GRCh37 |
1 | 267 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 26, 2022 | RCV002795536.1 | |
RNU4ATAC-related disorder
|
Likely benign (1) |
|
Jun 20, 2019 | RCV003936321.1 |
CLASP1-related disorder
|
Likely benign (1) |
|
Jun 20, 2019 | RCV003936320.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 02, 2024