ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p22.3(chr2:32437298-34106470)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 | |||
BIRC6 | - | - |
GRCh38 GRCh37 |
289 | 340 | |
FAM98A | - | - | - |
GRCh38 GRCh37 |
30 | 52 |
LTBP1 | - | - |
GRCh38 GRCh37 |
148 | 185 | |
NLRC4 | - | - |
GRCh38 GRCh37 |
743 | 782 | |
RASGRP3 | - | - |
GRCh38 GRCh37 |
25 | 58 | |
SLC30A6 | - | - |
GRCh38 GRCh37 |
27 | 75 | |
TTC27 | - | - | - |
GRCh38 GRCh37 |
57 | 96 |
YIPF4 | - | - |
GRCh38 GRCh37 |
14 | 48 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986336.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024