ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q21.1(chr15:44890130-45381998)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
B2M | - | - |
GRCh38 GRCh38 GRCh37 |
55 | 71 | |
PATL2 | - | - |
GRCh38 GRCh38 GRCh37 |
54 | 73 | |
SORD | - | - |
GRCh38 GRCh37 |
88 | 114 | |
SPG11 | - | - |
GRCh38 GRCh37 |
3218 | 3318 | |
TERB2 | - | - |
GRCh38 GRCh37 |
8 | 31 | |
TRIM69 | - | - |
GRCh38 GRCh38 GRCh37 |
44 | 65 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 7, 2017 | RCV000683687.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022