ClinVar Genomic variation as it relates to human health
NC_000012.11:g.(?_64849651)_(65857102_?)del
Germline
Classification
(1)
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 | |||
LEMD3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
546 | 632 | |
GNS | - | - |
GRCh38 GRCh37 |
742 | 756 | |
MSRB3 | - | - |
GRCh38 GRCh37 |
89 | 104 | |
RASSF3 | - | - |
GRCh38 GRCh37 |
12 | 25 | |
TBC1D30 | - | - |
GRCh38 GRCh37 |
37 | 52 | |
TBK1 | - | - |
GRCh38 GRCh37 |
454 | 465 | |
WIF1 | - | - |
GRCh38 GRCh37 |
44 | 59 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 30, 2022 | RCV003116735.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023