ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q11.2(chr14:23390903-23414236)x1
Germline
Classification
(1)
conflicting data from submitters
no assertion criteria provided
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 |
3598 | 4854 | |
LOC114827851 | - | - | - | GRCh38 | - | 241 |
MYH6 | - | - |
GRCh38 GRCh37 |
1827 | 2329 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
conflicting data from submitters (1) |
|
Jan 25, 2013 | RCV000138292.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022