ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q11.23(chr8:52605905-54913501)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 |
90 | 144 | |
ALKAL1 | - | - |
GRCh38 GRCh37 |
12 | 63 | |
ATP6V1H | - | - |
GRCh38 GRCh37 |
28 | 54 | |
NPBWR1 | - | - |
GRCh38 GRCh37 |
29 | 65 | |
OPRK1 | - | - |
GRCh38 GRCh37 |
12 | 48 | |
PCMTD1 | - | - |
GRCh38 GRCh37 |
9 | 36 | |
PXDNL | - | - |
GRCh38 GRCh37 |
177 | 210 | |
RGS20 | - | - |
GRCh38 GRCh37 |
24 | 51 | |
ST18 | - | - |
GRCh38 GRCh37 |
66 | 95 | |
TCEA1 | - | - |
GRCh38 GRCh37 |
- | 41 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 29, 2019 | RCV001258408.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023