ClinVar Genomic variation as it relates to human health
NM_016373.4:c.517-94998_1056+78427del
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 | |||
LOC110120570 | - | - | - | GRCh38 | - | 29 |
LOC112486209 | - | - | - | GRCh38 | - | 34 |
LOC132090432 | - | - | - | GRCh38 | - | 30 |
LOC132090433 | - | - | - | GRCh38 | - | 30 |
LOC132090434 | - | - | - | GRCh38 | - | 30 |
LOC132090435 | - | - | - | GRCh38 | - | 34 |
WWOX | - | - |
GRCh38 GRCh37 |
868 | 1160 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 23, 2023 | RCV003326028.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023