| Submission | GVM000116 2021-01-20 Zhuhai People's Hospital |
| Organism | Homo sapiens |
| Version | GRCh38 |
| BioProject | PRJCA004266 |
| Sample numbers | 9 |
| 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 date | 2023-01-16 |
| Available data | |
| data submitter: amyzh69@gmail.com | |
| lvnc.recode.vcf.gz | |
