ClinVar Genomic variation as it relates to human health
NM_024899.4(CEP76):c.262A>G (p.Ile88Val)
Germline
Classification
(1)
Likely 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 | |||
CEP76 | - | - |
GRCh38 GRCh37 |
- | 129 | |
PSMG2 | - | - |
GRCh38 GRCh37 |
190 | 319 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Aug 10, 2021 | RCV004103599.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 07, 2024