ClinVar Genomic variation as it relates to human health
NM_152515.5(CKAP2L):c.2013-7C>A
Germline
Classification
(2)
Benign
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 | |||
CKAP2L | - | - |
GRCh38 GRCh37 |
148 | 205 | |
NT5DC4 | - | - | - |
GRCh38 GRCh37 |
1 | 57 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Dec 7, 2023 | RCV003721802.2 | |
CKAP2L-related disorder
|
Likely benign (1) |
|
Jun 17, 2019 | RCV003909097.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024