ClinVar Miner

Variants studied for Megaconial type congenital muscular dystrophy

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
33 9 167 155 19 1 363

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHKB, CHKB-CPT1B 30 7 163 149 18 1 348
CHKB, CHKB-CPT1B, LOC130067882 1 1 2 6 0 0 9
CHKB 1 0 2 0 0 0 3
ADM2, CHKB, CIMAP1B, CPT1B, KLHDC7B, LMF2, MIOX, NCAPH2, SBF1, SCO2, SYCE3, TYMP 1 0 0 0 0 0 1
CHKB, CHKB-CPT1B, LOC130067883 0 0 0 0 1 0 1
PEPD 0 1 0 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 24 4 133 152 12 0 325
Illumina Laboratory Services, Illumina 0 0 27 2 9 0 38
OMIM 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 2 0 0 5
Next Generation Genetic Polyclinic 0 2 3 0 0 0 5
Revvity Omics, Revvity 0 0 4 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 2 2 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Pars Genome Lab 1 0 0 0 0 0 1
3billion 1 0 0 0 0 0 1

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