ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10p13(chr10:12805430-13306566)x3
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 | |||
CAMK1D | - | - |
GRCh38 GRCh37 |
13 | 46 | |
CCDC3 | - | - | - |
GRCh38 GRCh37 |
26 | 58 |
MCM10 | - | - |
GRCh38 GRCh37 |
80 | 108 | |
OPTN | - | - |
GRCh38 GRCh37 |
367 | 498 | |
UCMA | - | - | - |
GRCh38 GRCh37 |
18 | 43 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
May 23, 2019 | RCV001194562.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022