ClinVar Genomic variation as it relates to human health
NC_000019.9:g.23624728_24054225del429498
Germline
Classification
(1)
Likely benign
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 | |||
LOC125371498 | - | - | - | GRCh38 | - | 14 |
LOC130064105 | - | - | - | GRCh38 | - | 12 |
LOC130064106 | - | - | - | GRCh38 | - | 18 |
LOC130064107 | - | - | - | GRCh38 | - | 18 |
RPSA2 | - | - | - | GRCh38 | 2 | 20 |
ZNF675 | - | - |
GRCh38 GRCh37 |
33 | 63 | |
ZNF681 | - | - | - |
GRCh38 GRCh37 |
39 | 69 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jun 1, 2018 | RCV000754468.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023