ClinVar Genomic variation as it relates to human health
NM_020314.7(VPS35L):c.2886G>C (p.Arg962Ser)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
VPS35L | - | - |
GRCh38 GRCh37 |
27 | 47 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
VPS35L-related disorder
|
Uncertain significance (1) |
|
Jun 26, 2023 | RCV003417090.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024