ClinVar Genomic variation as it relates to human health
NM_001369769.2(KIFC2):c.81G>C (p.Glu27Asp)
Germline
Classification
(1)
Likely benign
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 | |||
KIFC2 | - | - |
GRCh38 GRCh37 |
65 | 171 | |
LOC130001404 | - | - | - | GRCh38 | - | 32 |
TMEM276 | - | - | - | GRCh38 | - | 45 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 25, 2022 | RCV004244201.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024