ClinVar Miner

Variants studied for Nemaline myopathy 6

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
4 4 371 184 78 1 612

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KBTBD13 4 3 369 184 78 1 609
ANKDD1A, APH1B, CA12, CIAO2A, CILP, CLPX, CSNK1G1, DAPK2, DENND4A, DPP8, FBXL22, HACD3, HERC1, IGDCC3, IGDCC4, INTS14, KBTBD13, LACTB, MEGF11, MTFMT, OAZ2, PARP16, PCLAF, PDCD7, PIF1, PLEKHO2, PPIB, RAB11A, RAB8B, RASL12, RBPMS2, RNU5A-1, RPS27L, SLC24A1, SLC51B, SNX1, SNX22, SPG21, TRIP4, UBAP1L, USP3, ZNF609 0 1 0 0 0 0 1
KBTBD13, MTFMT, RASL12, SLC51B, SPG21 0 0 1 0 0 0 1
MVK 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 1 327 178 58 0 565
Illumina Laboratory Services, Illumina 0 0 31 8 36 0 75
Revvity Omics, Revvity 0 0 10 0 0 0 10
Genome-Nilou Lab 0 0 0 0 4 0 4
OMIM 3 0 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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