ClinVar Genomic variation as it relates to human health
NC_000016.10:g.(?_29824300)_(29826034_?)del
Germline
Classification
(1)
Likely 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 | |||
PRRT2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6 | 890 | |
LOC130058793 | - | - | - | GRCh38 | - | 124 |
LOC130058794 | - | - | - | GRCh38 | - | 124 |
MVP | - | - |
GRCh38 GRCh37 |
67 | 351 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 1, 2018 | RCV000585833.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023