ClinVar Genomic variation as it relates to human health
NC_000003.12:g.(?_37452365)_(38950372_?)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 |
3739 | 4175 | |
SLC22A14 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
39 | 56 | |
ACAA1 | - | - |
GRCh38 GRCh37 |
30 | 48 | |
ACVR2B | - | - |
GRCh38 GRCh37 |
336 | 367 | |
CTDSPL | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 29 | |
DLEC1 | - | - |
GRCh38 GRCh37 |
143 | 171 | |
EXOG | - | - |
GRCh38 GRCh37 |
23 | 42 | |
ITGA9 | - | - |
GRCh38 GRCh38 GRCh37 |
82 | 115 | |
MIR26A1 | - | - |
GRCh38 GRCh37 |
- | 17 | |
MYD88 | - | - |
GRCh38 GRCh37 |
143 | 160 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 25, 2019 | RCV001031367.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022