Left ventricular noncompaction cardiomyopathy
An Autosomal dominant, Autosomal recessive, X-linked recessive, MT inheritance mode(s) within the Cardiovascular disorders category
Benign/Likely benign
1
Conflicting classifications of pathogenicity
2
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001368067.1(LDB3):c.456G>A (p.Ala152=) | Single nucleotide variant | Chr10:86687180 | Conflicting classifications of pathogenicity | Synonymous variant|intron variant | rs371708921 |
.Cytogenetics- Mohapatra Lab, Banaras Hindu University |
| NM_001368067.1(LDB3):c.546T>C (p.Ser182=) | Single nucleotide variant | Chr10:86687270 | Conflicting classifications of pathogenicity | Synonymous variant|intron variant | rs71473272 |
.Cytogenetics- Mohapatra Lab, Banaras Hindu University |
| NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) | Single nucleotide variant | Chr10:86691958 | Benign/Likely benign | Missense variant | rs34423165 |
.Cytogenetics- Mohapatra Lab, Banaras Hindu University |
| NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) | Single nucleotide variant | Chr11:47332244 | Pathogenic/Likely pathogenic | Nonsense | rs368765949 |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution