ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q23.1(chr14:61393999-61520353)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 | |||
MNAT1 | - | - |
GRCh38 GRCh37 |
20 | 43 | |
SLC38A6 | - | - |
GRCh38 GRCh37 |
24 | 45 | |
TRMT5 | - | - |
GRCh38 GRCh37 |
220 | 245 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 9, 2018 | RCV000846382.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022