ClinVar Miner

Variants studied for left ventricular noncompaction 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
2 2 242 178 28 6 448

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DTNA 2 2 233 178 28 0 433
MYBPC3 0 0 0 0 0 4 4
JUP 0 0 2 0 0 0 2
ACTC1, GJD2-DT 0 0 0 0 0 1 1
ACTN2 0 0 1 0 0 0 1
LDB3 0 0 1 0 0 0 1
LDB3, LOC110121486 0 0 1 0 0 0 1
MYH6 0 0 1 0 0 0 1
MYH7 0 0 0 0 0 1 1
MYPN 0 0 1 0 0 0 1
PKP2 0 0 1 0 0 0 1
SCN5A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 221 171 28 0 420
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 5 9 0 15
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 2 5 0 8
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 8 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 6 1 0 8
Revvity Omics, Revvity 0 0 5 0 0 0 5
Baylor Genetics 0 0 4 0 0 0 4
Fulgent Genetics, Fulgent Genetics 0 0 3 0 1 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
OMIM 2 0 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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