ClinVar Genomic variation as it relates to human health
NM_015488.5(PNKD):c.984+2T>G
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 | |||
CATIP-AS2 | - | - | - | GRCh38 | - | 450 |
PNKD | - | - |
GRCh38 GRCh37 |
89 | 622 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 12, 2022 | RCV002601331.2 | |
Uncertain significance (1) |
|
Apr 4, 2024 | RCV003992674.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024