ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_165946660)_(166894662_?)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 | |||
SCN1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2214 | 4588 | |
SCN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2573 | 2648 | |
CSRNP3 | - | - |
GRCh38 GRCh37 |
36 | 100 | |
GALNT3 | - | - |
GRCh38 GRCh37 |
433 | 496 | |
SCN3A | - | - |
GRCh38 GRCh37 |
1667 | 1721 | |
TTC21B | - | - |
GRCh38 GRCh37 |
1122 | 1325 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 13, 2022 | RCV003105605.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024