ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_97132)_(167394_?)del
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 | |||
NPRL3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
163 | 1053 | |
MPG | - | - |
GRCh38 GRCh37 |
18 | 104 | |
POLR3K | - | - |
GRCh38 GRCh37 |
9 | 68 | |
RHBDF1 | - | - |
GRCh38 GRCh37 |
84 | 150 | |
SNRNP25 | - | - | - |
GRCh38 GRCh37 |
9 | 70 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 11, 2023 | RCV004582782.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024