ClinVar Genomic variation as it relates to human health
NM_138295.5(PKD1L1):c.8061C>T (p.Pro2687=)
Germline
Classification
(2)
Benign/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 | |||
PKD1L1 | - | - |
GRCh38 GRCh37 |
612 | 753 | |
PKD1L1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 140 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Oct 10, 2023 | RCV002611042.2 | |
Likely benign (1) |
|
May 8, 2019 | RCV003926730.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024