ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p22.2(chr3:37987092-38194369)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 | |||
ACAA1 | - | - |
GRCh38 GRCh37 |
30 | 48 | |
CTDSPL | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 29 | |
DLEC1 | - | - |
GRCh38 GRCh37 |
143 | 171 | |
MIR26A1 | - | - |
GRCh38 GRCh37 |
- | 17 | |
MYD88 | - | - |
GRCh38 GRCh37 |
143 | 160 | |
PLCD1 | - | - |
GRCh38 GRCh37 |
138 | 156 | |
VILL | - | - |
GRCh38 GRCh37 |
63 | 83 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 7, 2019 | RCV001005425.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022