ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q21.3(chr2:136085311-136419768)x1
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 | |||
R3HDM1 | - | - |
GRCh38 GRCh37 |
59 | 77 | |
ZRANB3 | - | - |
GRCh38 GRCh37 |
74 | 96 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 27, 2018 | RCV000846506.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022