ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q23.2(chr16:80892672-81133120)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
ATMIN | - | - |
GRCh38 GRCh38 GRCh37 |
57 | 129 | |
C16orf46 | - | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 68 |
CENPN | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 93 | |
CMC2 | - | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 67 |
GCSH | - | - |
GRCh38 GRCh38 GRCh37 |
68 | 186 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 13, 2018 | RCV000846585.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023