Journal article icon

Journal article

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

Abstract:

Purpose

Integrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Association for Molecular Pathology classification framework for specific genes and diseases. The Cardiomyopathy Expert Panel selected MYH7, a key contributor to inherited cardiomyopathies, as a pilot gene to develop a broadly app...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Files:
Publisher copy:
10.1038/gim.2017.218

Authors


Expand authors...
Wellcome Trust More from this funder
Expand funders...
Publisher:
Springer Nature Publisher's website
Journal:
Genetics in Medicine Journal website
Volume:
20
Issue:
3
Pages:
351-359
Publication date:
2018-01-04
Acceptance date:
2017-10-24
DOI:
EISSN:
1530-0366
ISSN:
1098-3600
Pmid:
29300372
Source identifiers:
815184
Language:
English
Subjects:
Pubs id:
pubs:815184
UUID:
uuid:5c7d026b-0c2c-44ad-9b29-09f809bb2945
Local pid:
pubs:815184
Deposit date:
2019-02-25

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP