ClinVar Miner

Variants studied for myofibrillar myopathy 6

Included ClinVar conditions (2):
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
91 9 619 321 47 1 1054

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
BAG3 91 9 619 319 47 1 1052
CD46 0 0 0 1 0 0 1
LPA 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 89 6 586 311 31 0 1023
Fulgent Genetics, Fulgent Genetics 7 3 55 5 2 0 72
Illumina Laboratory Services, Illumina 0 0 23 9 30 0 62
Mendelics 0 0 0 0 5 0 5
Athena Diagnostics 0 0 0 0 4 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 0 2 0 0 0 4
OMIM 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 2 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Baylor Genetics 1 0 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
GeneReviews 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 1 0 1
New York Genome Center 0 0 1 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 0 1

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