ClinVar Genomic variation as it relates to human health
NM_001031698.3(PRPF40B):c.1986T>A (p.Ala662=)
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 | |||
FMNL3 | - | - |
GRCh38 GRCh37 |
62 | 107 | |
PRPF40B | - | - | - |
GRCh38 GRCh37 |
36 | 78 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 1, 2024 | RCV004546209.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024