ClinVar Genomic variation as it relates to human health
NC_000014.9:g.(?_23412738)_(23420234_?)del
Germline
Classification
(1)
Likely 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 | |||
MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3598 | 4854 | |
LOC126861897 | - | - | - | GRCh38 | - | 522 |
MHRT | - | - | GRCh38 | - | 775 | |
MIR208B | - | - |
GRCh38 GRCh37 |
- | 44 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 18, 2018 | RCV004018390.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024