ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q21(chr6:111198703-111878472)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 | |||
AMD1 | - | - |
GRCh38 GRCh37 |
8 | 42 | |
GTF3C6 | - | - |
GRCh38 GRCh37 |
7 | 34 | |
MFSD4B | - | - |
GRCh38 GRCh37 |
6 | 34 | |
REV3L | - | - |
GRCh38 GRCh37 |
272 | 304 | |
RPF2 | - | - |
GRCh38 GRCh37 |
24 | 50 | |
SLC16A10 | - | - |
GRCh38 GRCh37 |
31 | 63 | |
TRAF3IP2 | - | - |
GRCh38 GRCh37 |
- | 267 | |
TRAF3IP2-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 267 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 7, 2022 | RCV002473604.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022