ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q22.1(chr14:50689616-50793614)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
LOC126861936 | - | - | - | GRCh38 | - | 21 |
LOC130055602 | - | - | - | GRCh38 | - | 27 |
LOC130055603 | - | - | - | GRCh38 | - | 8 |
LOC130055604 | - | - | - | GRCh38 | - | 7 |
LOC130055605 | - | - | - | GRCh38 | - | 7 |
LOC130055606 | - | - | - | GRCh38 | - | 7 |
LOC130055607 | - | - | - | GRCh38 | - | 7 |
LOC130055608 | - | - | - | GRCh38 | - | 7 |
LOC130055609 | - | - | - | GRCh38 | - | 7 |
NIN | - | - |
GRCh38 GRCh37 |
676 | 745 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Apr 30, 2011 | RCV000139952.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023