ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_1496632)_(1561171_?)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 | |||
CLCN7 | - | - |
GRCh38 GRCh37 |
- | - | |
IFT140 | - | - |
GRCh38 GRCh37 |
- | - | |
PTX4 | - | - |
GRCh38 GRCh37 |
- | - | |
TELO2 | - | - |
GRCh38 GRCh37 |
- | - |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 15, 2022 | RCV003116763.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024