ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_38518768)_(38674808_?)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 | |||
SCN5A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3724 | 4156 | |
ACVR2B | - | - |
GRCh38 GRCh37 |
334 | 365 | |
EXOG | - | - |
GRCh38 GRCh37 |
18 | 37 | |
LOC110121269 | - | - | - | GRCh38 | - | 413 |
LOC110121286 | - | - | - | GRCh38 | - | 5 |
LOC110121287 | - | - | - | GRCh38 | - | 5 |
LOC129936487 | - | - | - | GRCh38 | - | 5 |
LOC129936488 | - | - | - | GRCh38 | - | 5 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 29, 2018 | RCV000813340.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023