ClinVar Genomic variation as it relates to human health
NM_001377265.1(MAPT):c.*3078=
Germline
Classification
(2)
Benign
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 | |||
KANSL1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
1209 | 1343 | |
MAPT | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
496 | 625 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jun 14, 2016 | RCV000356132.5 | |
Benign (1) |
|
Jun 14, 2016 | RCV000358856.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 25, 2023