ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q13.4(chr11:71777538-72144933)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 | |||
ANAPC15 | - | - |
GRCh38 GRCh37 |
- | 112 | |
CLPB | - | - |
GRCh38 GRCh37 |
538 | 697 | |
FOLR1 | - | - |
GRCh38 GRCh37 |
257 | 271 | |
FOLR2 | - | - |
GRCh38 GRCh37 |
16 | 29 | |
FOLR3 | - | - |
GRCh38 GRCh37 |
27 | 40 | |
INPPL1 | - | - |
GRCh38 GRCh37 |
518 | 556 | |
LAMTOR1 | - | - |
GRCh38 GRCh37 |
- | 22 | |
LRTOMT | - | - |
GRCh38 GRCh37 |
23 | 236 | |
NUMA1 | - | - |
GRCh38 GRCh37 |
49 | 183 | |
PHOX2A | - | - |
GRCh38 GRCh37 |
20 | 36 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 4, 2022 | RCV002472869.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022