ClinVar Genomic variation as it relates to human health
NM_005909.5(MAP1B):c.6254T>C (p.Val2085Ala)
Germline
Classification
(2)
Likely benign
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 | |||
MAP1B | - | - |
GRCh38 GRCh37 |
325 | 341 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Feb 17, 2022 | RCV002814120.2 | |
MAP1B-related disorder
|
Likely benign (1) |
|
Feb 26, 2023 | RCV003900895.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024