ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_12558090)_(12629156_?)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 | |||
RAF1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1077 | 1132 | |
MKRN2 | - | - |
GRCh38 GRCh37 |
31 | 65 | |
TSEN2 | - | - |
GRCh38 GRCh37 |
260 | 312 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 23, 2022 | RCV003113141.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024