ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q14.3-15(chr5:87399001-92675748)x3
Germline
Classification
(1)
Likely pathogenic
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 | |||
MEF2C | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
453 | 560 | |
ADGRV1 | - | - |
GRCh38 GRCh37 |
6295 | 6351 | |
ARRDC3 | - | - |
GRCh38 GRCh37 |
17 | 45 | |
CETN3 | - | - |
GRCh38 GRCh37 |
8 | 37 | |
LUCAT1 | - | - |
GRCh38 GRCh37 |
- | 26 | |
LYSMD3 | - | - | - |
GRCh38 GRCh37 |
24 | 53 |
MBLAC2 | - | - | - |
GRCh38 GRCh37 |
15 | 49 |
MIR9-2 | - | - |
GRCh38 GRCh37 |
- | 28 | |
POLR3G | - | - |
GRCh38 GRCh37 |
13 | 46 | |
TMEM161B | - | - | - |
GRCh38 GRCh37 |
18 | 42 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Aug 22, 2017 | RCV000682576.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022