ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q27(chr6:166571083-167265466)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 | |||
MPC1 | - | - |
GRCh38 GRCh37 |
41 | 98 | |
PRR18 | - | - | - |
GRCh38 GRCh37 |
26 | 90 |
RPS6KA2 | - | - |
GRCh38 GRCh37 |
37 | 95 | |
SFT2D1 | - | - | - |
GRCh38 GRCh37 |
10 | 60 |
TBXT | - | - |
GRCh38 GRCh37 |
51 | 100 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV000447812.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024