ClinVar Miner

Variants studied for Nemaline myopathy 2

Coded as:
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 total
74 216 544 183 129 1124

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NEB 41 139 425 144 107 845
NEB, RIF1 33 77 119 39 22 279

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 39 10 424 170 128 771
Counsyl 20 201 117 13 0 351
Fulgent Genetics 4 2 6 0 0 12
OMIM 11 0 0 0 0 11
Illumina Clinical Services Laboratory,Illumina 0 2 5 0 0 7
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 6 0 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 2 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 0 0 0 2
Biochemistry Laboratory of CDMU,Chengde Medical University 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 1

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