ClinVar Genomic variation as it relates to human health
NM_002473.6(MYH9):c.2965A>C (p.Lys989Gln)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); 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 | |||
LOC126863137 | - | - | - | GRCh38 | - | 67 |
MYH9 | - | - |
GRCh38 GRCh37 |
1333 | 1431 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 6, 2021 | RCV002471385.1 | |
Likely benign (1) |
|
Jul 7, 2023 | RCV002571453.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2024