ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q21.3(chr1:152365299-152618044)x3
Germline
Classification
(1)
Likely benign
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 | |||
CCDST | - | - | - | GRCh38 | - | 1083 |
CRCT1 | - | - |
GRCh38 GRCh37 |
6 | 19 | |
CRNN | - | - |
GRCh38 GRCh37 |
35 | 50 | |
LCE3B | - | - |
GRCh38 GRCh37 |
3 | 16 | |
LCE3C | - | - |
GRCh38 GRCh37 |
7 | 21 | |
LCE3D | - | - |
GRCh38 GRCh37 |
12 | 26 | |
LCE3E | - | - |
GRCh38 GRCh37 |
8 | 22 | |
LCE5A | - | - |
GRCh38 GRCh37 |
9 | 22 | |
LOC129931458 | - | - | - | GRCh38 | - | 2 |
LOC129931459 | - | - | - | GRCh38 | - | 2 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Sep 21, 2012 | RCV000138737.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024