ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.2(chr17:4442248-4544930)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 | |||
ALOX15 | - | - |
GRCh38 GRCh37 |
45 | 87 | |
GGT6 | - | - |
GRCh38 GRCh37 |
48 | 88 | |
MYBBP1A | - | - |
GRCh38 GRCh37 |
203 | 244 | |
SMTNL2 | - | - | - |
GRCh38 GRCh37 |
45 | 85 |
SPNS2 | - | - |
GRCh38 GRCh37 |
102 | 145 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV000445704.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024