ClinVar Genomic variation as it relates to human health
NM_024411.5(PDYN):c.271C>T (p.Pro91Ser)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
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 | |||
PDYN | - | - |
GRCh38 GRCh37 |
2 | 222 | |
PDYN-AS1 | - | - | - | GRCh38 | - | 199 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Feb 23, 2022 | RCV003117289.4 | |
Uncertain significance (1) |
|
Mar 1, 2024 | RCV004245961.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024