ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_37157752)_(37371079_?)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 | |||
CPLANE1 | - | - |
GRCh38 GRCh37 |
2062 | 2176 | |
NUP155 | - | - |
GRCh38 GRCh37 |
135 | 206 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 6, 2023 | RCV001992491.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024