ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_61108976)_(61275905_?)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 | |||
PEX13 | - | - |
GRCh38 GRCh37 |
481 | 581 | |
PUS10 | - | - |
GRCh38 GRCh37 |
30 | 129 | |
REL | - | - |
GRCh38 GRCh37 |
188 | 215 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 27, 2022 | RCV003113153.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 18, 2023