ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17p13.3(chr17:2254635-2331068)x1
Germline
Classification
(1)
Benign
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 | |||
LOC130059943 | - | - | - | GRCh38 | - | 30 |
LOC130059944 | - | - | - | GRCh38 | - | 30 |
LOC130059945 | - | - | - | GRCh38 | - | 27 |
LOC130059946 | - | - | - | GRCh38 | - | 27 |
SMG6 | - | - |
GRCh38 GRCh37 |
96 | 182 | |
SNORD91A | - | - | - | GRCh38 | - | 28 |
SNORD91B | - | - | - | GRCh38 | - | 28 |
SRR | - | - |
GRCh38 GRCh37 |
8 | 100 | |
TSR1 | - | - |
GRCh38 GRCh37 |
46 | 135 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 30, 2010 | RCV000136858.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024