ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q21.13(chr7:88521030-90256023)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 | |||
CFAP69 | - | - |
GRCh38 GRCh37 |
85 | 120 | |
LOC105375387 | - | - | - | GRCh38 | - | 24 |
LOC113748415 | - | - | - | GRCh38 | - | 9 |
LOC126860098 | - | - | - | GRCh38 | - | 9 |
LOC126860099 | - | - | - | GRCh38 | - | 21 |
LOC126860100 | - | - | - | GRCh38 | - | 21 |
LOC129998766 | - | - | - | GRCh38 | - | 15 |
LOC129998767 | - | - | - | GRCh38 | - | 15 |
LOC129998768 | - | - | - | GRCh38 | - | 15 |
LOC129998769 | - | - | - | GRCh38 | - | 15 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000053469.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023