ClinVar Miner

Variants studied for cardiomyopathy, familial restrictive, 1

Included ClinVar conditions (4):
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
13 6 28 10 9 1 64

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TNNI3 12 6 25 9 3 0 52
DNAAF3, TNNI3 0 0 1 1 5 0 7
CRYAB 1 0 0 0 0 0 1
DNAAF3, LOC130065090, TNNI3 0 0 1 0 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 0 0 1 0 1
FLNC 0 0 0 0 0 1 1
MYL3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 13 8 7 0 28
Fulgent Genetics, Fulgent Genetics 4 1 13 2 2 0 22
OMIM 6 0 0 0 0 0 6
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 1 1 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1

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