ClinVar Genomic variation as it relates to human health
NC_000011.9:g.(?_94209449)_(94212048_?)dup
Germline
Classification
(2)
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 | |||
MRE11 | - | - |
GRCh38 GRCh37 |
2036 | 2073 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 14, 2017 | RCV000528294.2 | |
Likely pathogenic (1) |
|
Aug 12, 2021 | RCV001379841.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023