ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_15134228)_(15164050_?)dup
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
PMP22 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
405 | 523 | |
MIR4731 | - | - | - | GRCh38 | - | 39 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 3, 2019 | RCV000808642.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024