ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q24.3-31.1(chr14:78146198-79579273)x4
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 | |||
ADCK1 | - | - | - |
GRCh38 GRCh37 |
30 | 54 |
ALKBH1 | - | - |
GRCh38 GRCh37 |
22 | 49 | |
C14orf178 | - | - | - |
GRCh38 GRCh37 |
- | 24 |
SLIRP | - | - |
GRCh38 GRCh37 |
8 | 33 | |
SNW1 | - | - |
GRCh38 GRCh37 |
16 | 41 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240478.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022