ClinVar Miner

Variants studied for congenital myasthenic syndrome with tubular aggregates

Included ClinVar conditions (6):
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
51 25 505 360 68 1 986

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GFPT1 30 11 235 153 49 0 465
ALG2 3 2 159 108 12 0 280
DPAGT1 12 9 86 71 6 0 180
DPAGT1, LOC126861360 5 2 22 27 0 0 54
DPAGT1, HMBS 0 0 0 1 1 1 2
ABCG4, C2CD2L, CBL, CCDC153, DPAGT1, HINFP, NHERF4, NLRX1 1 0 0 0 0 0 1
ABCG4, C2CD2L, CBL, CCDC153, DPAGT1, HINFP, NLRX1, PDZD3 0 0 1 0 0 0 1
ALG2, ANKS6, ANP32B, COL15A1, CORO2A, ERP44, FOXE1, GABBR2, GALNT12, HEMGN, INVS, NANS, NCBP1, NR4A3, SEC61B, STX17, TBC1D2, TDRD7, TGFBR1, TMOD1, TRIM14, TRMO, TSTD2, XPA 0 0 1 0 0 0 1
FAT1 0 1 0 0 0 0 1
RYR1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 35 11 380 345 41 0 812
Illumina Laboratory Services, Illumina 0 1 118 12 30 0 161
OMIM 15 0 0 0 0 0 15
Fulgent Genetics, Fulgent Genetics 1 0 6 4 1 0 12
3billion 2 3 1 0 0 0 6
Genome-Nilou Lab 0 0 0 0 4 0 4
Baylor Genetics 0 1 1 0 0 0 2
Revvity Omics, Revvity 1 0 1 0 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 0 2 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1

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