ClinVar Genomic variation as it relates to human health
NM_014476.6(PDLIM3):c.364C>T (p.Arg122Trp)
Germline
Classification
(2)
Uncertain significance
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 | |||
LOC126807246 | - | - | - | GRCh38 | - | 94 |
PDLIM3 | - | - |
GRCh38 GRCh37 |
393 | 563 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 25, 2023 | RCV003775691.1 | |
Uncertain significance (1) |
|
Mar 3, 2022 | RCV004049570.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024