ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_42363988)_(42410938_?)dup
Germline
Classification
(1)
Uncertain significance
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 | |||
RPS19 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
238 | 257 | |
ARHGEF1 | - | - |
GRCh38 GRCh37 |
682 | 691 | |
CD79A | - | - |
GRCh38 GRCh37 |
154 | 164 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 7, 2022 | RCV004579789.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024