ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p13.3-13.2(chr1:111277065-111804157)x1
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 | |||
CD53 | - | - |
GRCh38 GRCh37 |
- | 25 | |
CEPT1 | - | - |
GRCh38 GRCh37 |
13 | 32 | |
CHI3L2 | - | - |
GRCh38 GRCh37 |
28 | 50 | |
DENND2D | - | - |
GRCh38 GRCh37 |
23 | 54 | |
DRAM2 | - | - |
GRCh38 GRCh37 |
181 | 202 | |
LRIF1 | - | - |
GRCh38 GRCh37 |
46 | 72 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986462.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024