ClinVar Genomic variation as it relates to human health
NM_002667.5(PLN):c.45C>A (p.Ala15=)
Germline
Classification
(2)
Likely benign
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 | |||
CEP85L | - | - |
GRCh38 GRCh37 |
79 | 272 | |
PLN | - | - |
GRCh38 GRCh37 |
1 | 186 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jan 19, 2022 | RCV003074216.2 | |
Likely benign (1) |
|
Jun 14, 2023 | RCV003274189.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024