ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_2233574)_(2499178_?)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 | |||
KCNQ1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1717 | 2650 | |
ASCL2 | - | - |
GRCh38 GRCh37 |
15 | 54 | |
C11orf21 | - | - |
GRCh38 GRCh37 |
3 | 52 | |
CD81 | - | - |
GRCh38 GRCh37 |
210 | 274 | |
TRPM5 | - | - |
GRCh38 GRCh37 |
134 | 172 | |
TSPAN32 | - | - |
GRCh38 GRCh37 |
29 | 75 | |
TSSC4 | - | - |
GRCh38 GRCh37 |
35 | 73 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 11, 2023 | RCV004580131.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024