Submission GVM000116
2021-01-20
Zhuhai People's Hospital
OrganismHomo sapiens
Version GRCh38
BioProjectPRJCA004266
Sample numbers9
Abstract

LVNC is a rare genetic cardiomyopathy of endocardial morphogenesis with the highest reported mortality rate at 38%. While 16%-42% of LVNC cases are familial, reports of LVNC-related genes are relatively limited, suggesting the genetic etiologies of LVNC remain largely unexplored. By screening the non-silent single nucleotide variants with phenotypic segregation, we identified 37 possible disease-causing variants in a 3-generation Chinese family. We hope that the results will be useful for the early diagnosis and management of LVNC in the future.

Data Accessibility:Controlled access   
Release date2023-01-16
Available data
data submitter: amyzh69@gmail.com
lvnc.recode.vcf.gz