ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q21.1(chr21:19472236-22485199)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 | |||
CHODL | - | - |
GRCh38 GRCh37 |
12 | 95 | |
NCAM2 | - | - |
GRCh38 GRCh37 |
80 | 154 | |
TMPRSS15 | - | - |
GRCh38 GRCh37 |
463 | 541 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 15, 2022 | RCV002472791.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024