ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_154801957)_(155551394_?)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 | |||
C3orf33 | - | - |
GRCh38 GRCh37 |
2 | 19 | |
MME | - | - |
GRCh38 GRCh37 |
657 | 680 | |
PLCH1 | - | - |
GRCh38 GRCh37 |
120 | 139 | |
SLC33A1 | - | - |
GRCh38 GRCh37 |
219 | 236 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 27, 2021 | RCV001896818.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024