ClinVar Genomic variation as it relates to human health
NM_001042544.1:c.3885_3893del
Germline
Classification
(1)
Likely pathogenic
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 | |||
LTBP4 | - | - |
GRCh38 GRCh37 |
869 | 943 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 10, 2022 | RCV002280833.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 10, 2022
The genomic location for this variant will not be computed from alignment of the transcript sequence to the genome until there is experimental evidence for the genomic basis of the deletion.