ClinVar Genomic variation as it relates to human health
NM_004070.4(CLCNKA):c.1972G>A (p.Val658Met)
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 | |||
CLCNKA | - | - |
GRCh38 GRCh37 |
26 | 216 | |
LOC106501712 | - | - | - | GRCh38 | - | 174 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 1, 2023 | RCV003333244.1 | |
Uncertain significance (1) |
|
Mar 1, 2023 | RCV003193055.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024