ClinVar Genomic variation as it relates to human health
NM_002474.3(MYH11):c.3311C>G (p.Ala1104Gly)
Germline
Classification
(2)
Uncertain significance
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 | |||
MYH11 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
1988 | 3711 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 1, 2024 | RCV003630070.1 | |
Uncertain significance (1) |
|
Feb 24, 2023 | RCV004005927.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 20, 2024