ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_10912954)_(11200309_?)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 | |||
LDLR | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4059 | 4334 | |
SMARCA4 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5660 | 5686 | |
C19orf38 | - | - | - |
GRCh38 GRCh37 |
1 | 25 |
CARM1 | - | - |
GRCh38 GRCh37 |
17 | 44 | |
DNM2 | - | - |
GRCh38 GRCh37 |
1129 | 1225 | |
MIR199A1 | - | - |
GRCh38 GRCh37 |
- | 27 | |
TIMM29 | - | - |
GRCh38 GRCh37 |
4 | 25 | |
TMED1 | - | - |
GRCh38 GRCh37 |
11 | 34 | |
YIPF2 | - | - |
GRCh38 GRCh37 |
36 | 56 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 30, 2019 | RCV001345083.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023