ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p21.2(chr6:37160048-38287691)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 | |||
BTBD9 | - | - |
GRCh38 GRCh37 |
39 | 50 | |
CCDC167 | - | - | - |
GRCh38 GRCh37 |
8 | 15 |
CMTR1 | - | - |
GRCh38 GRCh37 |
26 | 33 | |
MDGA1 | - | - |
GRCh38 GRCh37 |
55 | 63 | |
RNF8 | - | - |
GRCh38 GRCh37 |
8 | 24 | |
TBC1D22B | - | - |
GRCh38 GRCh37 |
17 | 25 | |
TMEM217 | - | - | - |
GRCh38 GRCh37 |
- | 21 |
ZFAND3 | - | - |
GRCh38 GRCh37 |
10 | 20 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986624.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024