ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_15307172)_(17963206_?)dup
Germline
Classification
(1)
Uncertain significance
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 | |||
MYCN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
166 | 267 | |
GEN1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
613 | 641 | |
CYRIA | - | - | - |
GRCh38 GRCh37 |
7 | 33 |
DDX1 | - | - |
GRCh38 GRCh37 |
36 | 72 | |
MYCNOS | - | - |
GRCh38 GRCh37 |
- | 101 | |
NBAS | - | - |
GRCh38 GRCh37 |
2386 | 2467 | |
RAD51AP2 | - | - | - |
GRCh38 GRCh37 |
68 | 102 |
SMC6 | - | - |
GRCh38 GRCh37 |
38 | 66 | |
VSNL1 | - | - |
GRCh38 GRCh37 |
4 | 30 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 25, 2023 | RCV004583812.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024