ClinVar Genomic variation as it relates to human health
NC_000021.8:g.35304341_36865875del
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
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 | |||
RUNX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1250 | 1603 | |
RCAN1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
11 | 88 | |
CLIC6 | - | - |
GRCh38 GRCh37 |
70 | 151 | |
KCNE1 | - | - |
GRCh38 GRCh37 |
341 | 419 | |
KCNE2 | - | - |
GRCh38 GRCh37 |
1 | 223 | |
MRPS6 | - | - |
GRCh38 GRCh37 |
9 | 90 | |
SLC5A3 | - | - |
GRCh38 GRCh37 |
- | 81 | |
SMIM11 | - | - | - |
GRCh38 GRCh37 |
1 | 78 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV001003847.1 | |
Pathogenic (1) |
|
Dec 9, 2023 | RCV003448360.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 25, 2023