ClinVar Genomic variation as it relates to human health
NM_005334.3(HCFC1):c.3681C>G (p.Asp1227Glu)
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 | |||
HCFC1 | - | - |
GRCh38 GRCh37 |
1242 | 1541 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 1, 2022 | RCV003231953.1 | |
Uncertain significance (1) |
|
Dec 6, 2021 | RCV004285642.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024