ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q21.3-22.1(chr8:91914994-93365750)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 | |||
LRRC69 | - | - | - |
GRCh38 GRCh37 |
21 | 67 |
NECAB1 | - | - | - |
GRCh38 GRCh37 |
11 | 51 |
OTUD6B | - | - |
GRCh38 GRCh37 |
58 | 101 | |
PIP4P2 | - | - |
GRCh38 GRCh37 |
15 | 53 | |
RUNX1T1 | - | - |
GRCh38 GRCh37 |
37 | 74 | |
SLC26A7 | - | - |
GRCh38 GRCh37 |
42 | 82 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 5, 2018 | RCV000683011.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022