ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.13(chr8:125310755-125983817)x3
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 | |||
MTSS1 | - | - |
GRCh38 GRCh38 GRCh37 |
58 | 119 | |
NDUFB9 | - | - |
GRCh38 GRCh38 GRCh37 |
98 | 160 | |
RNF139 | - | - |
GRCh38 GRCh38 GRCh37 |
32 | 90 | |
TATDN1 | - | - |
GRCh38 GRCh38 GRCh37 |
25 | 87 | |
TMEM65 | - | - |
GRCh38 GRCh37 |
5 | 67 | |
TRMT12 | - | - |
GRCh38 GRCh37 |
26 | 82 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 25, 2017 | RCV000848433.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022