ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_15512023)_(15687154_?)del
Germline
Classification
(1)
Pathogenic
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 | |||
BTD | - | - |
GRCh38 GRCh37 |
645 | 705 | |
COLQ | - | - |
GRCh38 GRCh37 |
563 | 588 | |
HACL1 | - | - |
GRCh38 GRCh37 |
40 | 70 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 8, 2022 | RCV003119225.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023