ClinVar Genomic variation as it relates to human health
NM_002474.3(MYH11):c.3093G>A (p.Lys1031=)
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 | |||
MYH11 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2029 | 3793 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 22, 2022 | RCV003630059.2 | |
Likely benign (1) |
|
Feb 5, 2024 | RCV004005922.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024