ClinVar Genomic variation as it relates to human health
NM_000257.4(MYH7):c.5808G>A (p.Ter1936=)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(2); Likely benign(1)
Uncertain significance(2); Likely benign(1)
criteria provided, conflicting classifications
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 | |||
MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3631 | 4905 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Aug 5, 2022 | RCV002359928.2 | |
Uncertain significance (1) |
|
Aug 10, 2022 | RCV003120940.5 | |
Uncertain significance (1) |
|
Dec 1, 2023 | RCV004005705.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024