ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p25.3(chr2:84669-206271)x1
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Benign(1)
Uncertain significance(1); Benign(1)
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 | |||
LOC126806091 | - | - | - | GRCh38 | 1 | 37 |
LOC126806092 | - | - | - | GRCh38 | 1 | 38 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (2) |
|
Feb 6, 2013 | RCV000133671.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024