ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q27(chr6:170466312-170919482)x1
Germline
Classification
(1)
Pathogenic
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 | |||
DLL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
428 | 592 | |
FAM120B | - | - |
GRCh38 GRCh38 GRCh37 |
47 | 137 | |
PDCD2 | - | - |
GRCh38 GRCh37 |
18 | 113 | |
PSMB1 | - | - |
GRCh38 GRCh37 |
11 | 106 | |
TBP | - | - |
GRCh38 GRCh37 |
20 | 146 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 10, 2022 | RCV003482941.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024