ClinVar Genomic variation as it relates to human health
NM_002474.3(MYH11):c.3985C>T (p.Arg1329Trp)
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 |
1786 | 3411 | |
NDE1 | - | - |
GRCh38 GRCh38 GRCh37 |
174 | 1797 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 24, 2024 | RCV002664036.2 | |
Uncertain significance (1) |
|
Mar 16, 2023 | RCV003294600.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024