ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p34.2(chr1:40657779-40758399)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 | |||
RLF | - | - |
GRCh38 GRCh37 |
91 | 103 | |
TMCO2 | - | - | - |
GRCh38 GRCh37 |
4 | 16 |
ZMPSTE24 | - | - |
GRCh38 GRCh37 |
197 | 236 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 14, 2017 | RCV000846319.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022