ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)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 | |||
RB1CC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
79 | 133 | |
ALKAL1 | - | - |
GRCh38 GRCh37 |
9 | 60 | |
ATP6V1H | - | - |
GRCh38 GRCh37 |
25 | 51 | |
CEBPD | - | - |
GRCh38 GRCh37 |
27 | 65 | |
CLXN | - | - |
GRCh38 GRCh37 |
10 | 37 | |
LINC00293 | - | - |
GRCh38 GRCh37 |
3 | 42 | |
LYPLA1 | - | - |
GRCh38 GRCh37 |
10 | 42 | |
MCM4 | - | - |
GRCh38 GRCh37 |
546 | 621 | |
MRPL15 | - | - |
GRCh38 GRCh37 |
21 | 50 | |
NPBWR1 | - | - |
GRCh38 GRCh37 |
24 | 60 |
There are 12 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 7, 2018 | RCV000683033.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023