ClinVar Genomic variation as it relates to human health
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
Germline
Classification
(4)
Pathogenic/Likely pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
DMD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9039 | 9326 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic/Likely pathogenic (2) |
|
Oct 17, 2022 | RCV002716798.3 | |
Likely pathogenic (1) |
|
Oct 12, 2022 | RCV003147785.1 | |
Likely pathogenic (1) |
|
Oct 12, 2022 | RCV003147786.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024