ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_10394568)_(10566215_?)del
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 | |||
CENPS | - | - |
GRCh38 GRCh37 |
- | 50 | |
CENPS-CORT | - | - | - |
GRCh38 GRCh37 |
- | 55 |
CORT | - | - |
GRCh38 GRCh37 |
- | 48 | |
DFFA | - | - |
GRCh38 GRCh37 |
28 | 72 | |
KIF1B | - | - |
GRCh38 GRCh37 |
2822 | 3112 | |
PEX14 | - | - |
GRCh38 GRCh37 |
439 | 521 | |
PGD | - | - |
GRCh38 GRCh37 |
29 | 71 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 18, 2021 | RCV001955921.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024