ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q25.1(chr3:150889603-151142420)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 | |||
CLRN1 | - | - |
GRCh38 GRCh37 |
367 | 415 | |
CLRN1-AS1 | - | - | - | GRCh38 | - | 31 |
LOC121048719 | - | - | - | GRCh38 | - | 4 |
LOC123192018 | - | - | - | GRCh38 | - | 4 |
LOC129937766 | - | - | - | GRCh38 | - | 5 |
LOC129937767 | - | - | - | GRCh38 | - | 4 |
MED12L | - | - |
GRCh38 GRCh37 |
162 | 463 | |
MINDY4B | - | - | - |
GRCh38 GRCh37 |
- | 22 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Sep 21, 2012 | RCV000138618.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024