ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q26.2(chr10:129298285-129812992)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 | |||
CLRN3 | - | - | - |
GRCh38 GRCh37 |
20 | 107 |
FOXI2 | - | - |
GRCh38 GRCh37 |
33 | 123 | |
NPS | - | - |
GRCh38 GRCh37 |
4 | 93 | |
PTPRE | - | - |
GRCh38 GRCh37 |
29 | 123 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 8, 2021 | RCV002474627.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022