ClinVar Genomic variation as it relates to human health
NC_000013.10:g.(?_51484213)_(52602726_?)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 | |||
ALG11 | - | - |
GRCh38 GRCh37 |
72 | 258 | |
ATP7B | - | - |
GRCh38 GRCh37 |
2850 | 2991 | |
CCDC70 | - | - | - |
GRCh38 GRCh37 |
- | 80 |
DHRS12 | - | - |
GRCh38 GRCh37 |
11 | 83 | |
FAM124A | - | - | - |
GRCh38 GRCh37 |
34 | 94 |
INTS6 | - | - |
GRCh38 GRCh37 |
31 | 111 | |
RNASEH2B | - | - |
GRCh38 GRCh37 |
426 | 544 | |
SERPINE3 | - | - | - |
GRCh38 GRCh37 |
- | 76 |
UTP14C | - | - |
GRCh38 GRCh37 |
- | 164 | |
WDFY2 | - | - |
GRCh38 GRCh37 |
12 | 84 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 29, 2021 | RCV003119199.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023