ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p12(chr2:75265687-77573171)
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 | |||
EVA1A | - | - |
GRCh38 GRCh37 |
18 | 40 | |
GCFC2 | - | - |
GRCh38 GRCh37 |
38 | 63 | |
LRRTM4 | - | - |
GRCh38 GRCh37 |
42 | 60 | |
MRPL19 | - | - |
GRCh38 GRCh37 |
18 | 41 | |
TACR1 | - | - |
GRCh38 GRCh37 |
18 | 46 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053161.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022