ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6q11.1(chr6:61468685-62190598)x4
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 | |||
KHDRBS2 | - | - |
GRCh38 GRCh37 |
37 | 58 | |
LOC121740654 | - | - | - | GRCh38 | - | 14 |
LOC123744833 | - | - | - | GRCh38 | - | 14 |
MTRNR2L9 | - | - | - | GRCh38 | - | 14 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Sep 20, 2011 | RCV000140757.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024