ClinVar Genomic variation as it relates to human health
NM_006612.6(KIF1C):c.2484G>A (p.Ala828=)
Germline
Classification
(2)
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 | |||
KIF1C | - | - |
GRCh38 GRCh37 |
515 | 656 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jul 17, 2022 | RCV002968005.2 | |
Likely benign (1) |
|
Sep 1, 2022 | RCV003418692.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024