The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- See Evidence submitted by expert panel for details.
Variant: NM_000257.3(MYH7):c.3853+7C>T
CA014162
42977 (ClinVar)
Gene: MYH7
Condition: cardiomyopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 740d3a8f-5dd0-4b55-8045-2571c2606486
Approved on: 2016-12-15
Published on: 2018-11-16
HGVS expressions
NM_000257.3:c.3853+7C>T
NM_000257.3(MYH7):c.3853+7C>T
NM_000257.4:c.3853+7C>T
ENST00000355349.3:c.3853+7C>T
NC_000014.9:g.23419476G>A
CM000676.2:g.23419476G>A
NC_000014.8:g.23888685G>A
CM000676.1:g.23888685G>A
NC_000014.7:g.22958525G>A
NG_007884.1:g.21186C>T
Evidence submitted by expert panel
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.