ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p11.2(chr17:18599744-18882395)x3
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 | |||
FAM83G | - | - |
GRCh38 GRCh37 |
- | 201 | |
FBXW10 | - | - |
GRCh38 GRCh37 |
2 | 116 | |
PRPSAP2 | - | - |
GRCh38 GRCh37 |
7 | 129 | |
SLC5A10 | - | - |
GRCh38 GRCh37 |
36 | 244 | |
TRIM16L | - | - | - |
GRCh38 GRCh37 |
29 | 143 |
TVP23B | - | - | - |
GRCh38 GRCh37 |
11 | 124 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 26, 2022 | RCV002473581.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022