ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q11.1-12(chr6:61886427-67715541)x1
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 | |||
PHF3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
127 | 674 | |
EYS | - | - |
GRCh38 GRCh37 |
4129 | 4683 | |
KHDRBS2 | - | - |
GRCh38 GRCh37 |
37 | 58 | |
LGSN | - | - |
GRCh38 GRCh37 |
36 | 45 | |
PTP4A1 | - | - |
GRCh38 GRCh37 |
- | 13 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 5, 2022 | RCV003485513.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024