ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1(chr8:6391161-6451673)x1
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
LOC123987612 | - | - | - |
GRCh38 GRCh38 |
- | 52 |
LOC126860290 | - | - | - |
GRCh38 GRCh38 |
- | 52 |
LOC129389953 | - | - | - |
GRCh38 GRCh38 |
- | 52 |
LOC129999779 | - | - | - |
GRCh38 GRCh38 |
- | 56 |
LOC129999780 | - | - | - |
GRCh38 GRCh38 |
- | 54 |
LOC129999781 | - | - | - |
GRCh38 GRCh38 |
- | 52 |
MCPH1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
807 | 1238 | |
MCPH1-DT | - | - | - |
GRCh38 GRCh38 |
- | 64 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052751.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023