ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q24.3(chr2:166338194-167854823)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
SCN1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2206 | 4567 | |
CSRNP3 | - | - | - |
GRCh38 GRCh37 |
36 | 100 |
GALNT3 | - | - |
GRCh38 GRCh37 |
431 | 494 | |
SCN7A | - | - |
GRCh38 GRCh37 |
173 | 214 | |
SCN9A | - | - |
GRCh38 GRCh37 |
446 | 2659 | |
TTC21B | - | - |
GRCh38 GRCh37 |
1109 | 1312 | |
XIRP2 | - | - |
GRCh38 GRCh37 |
396 | 433 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 12, 2018 | RCV001005353.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022