ClinVar Miner

Variants studied for autosomal dominant distal myopathy

Included ClinVar conditions (30):
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
117 28 1758 506 164 9 2556

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 16 4 831 231 3 6 1089
FLNC 43 9 576 169 75 1 872
DES 33 14 116 35 21 0 207
LDB3 1 0 121 29 30 0 177
MYOT 6 0 32 12 7 0 56
MATR3 4 1 23 8 6 0 41
LDB3, LOC110121486 3 0 24 4 6 0 35
TIA1 1 0 14 2 8 0 24
CRYAB 6 0 6 4 3 0 19
LOC101927055, TTN 0 0 6 11 0 0 17
CAV3 0 0 2 0 3 0 5
MYH14 1 0 4 0 0 0 5
CAV3, SSUH2 2 0 0 0 2 2 4
DES, DES-LCR 0 0 1 1 0 0 2
ABCB6, ANKZF1, ATG9A, BCS1L, CATIP, CDK5R2, CFAP65, CNOT9, CNPPD1, CRYBA2, CTDSP1, CYP27A1, DES, DNAJB2, DNPEP, FEV, GLB1L, IHH, MIR26B, MIR375, NHEJ1, PLCD4, PNKD, PRKAG3, PTPRN, RESP18, RETREG2, RNF25, SLC11A1, SLC23A3, STK16, STK36, TMBIM1, TTLL4, TUBA4A, USP37, VIL1, WNT10A, WNT6, ZFAND2B, ZNF142 1 0 0 0 0 0 1
ADCY5 0 0 1 0 0 0 1
FRMD1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 64 14 878 240 145 0 1341
Illumina Clinical Services Laboratory,Illumina 0 0 736 265 15 0 1016
Fulgent Genetics,Fulgent Genetics 2 0 142 0 0 0 144
OMIM 44 0 0 0 0 0 44
Phosphorus, Inc. 0 0 12 3 2 0 17
GeneReviews 13 0 0 0 0 0 13
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 10 0 0 0 11
Baylor Miraca Genetics Laboratories, 5 0 4 0 0 0 9
Athena Diagnostics Inc 0 0 0 0 7 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 4 0 0 0 0 6
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 5 0 0 0 6
Genetic Services Laboratory, University of Chicago 3 2 0 0 0 0 5
Leiden Muscular Dystrophy (CAV3) 0 0 0 0 0 2 2
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
PreventionGenetics 0 0 1 0 0 0 1
Mendelics 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 0 0 0 0 1
UniProtKB/Swiss-Prot 0 1 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Petrovsky Russian Research Center of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1

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