ClinVar Genomic variation as it relates to human health
NM_001126063.3(KHDC1L):c.292C>G (p.Arg98Gly)
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 | |||
KHDC1L | - | - | - |
GRCh38 GRCh37 |
- | 20 |
LOC113175017 | - | - | - | GRCh38 | - | 3 |
LOC122539213 | - | - | - | GRCh38 | - | 31 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 5, 2022 | RCV004177282.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024