ClinVar Miner

Variants studied for distal myopathy with posterior leg and anterior hand involvement

Included ClinVar conditions (7):
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
299 74 1808 1895 183 6 4185

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
FLNC 295 74 1795 1882 181 6 4153
FLNC, LOC129999273 2 0 10 13 2 0 27
ATP6V1F, FLNC, IRF5, KCP, TNPO3 1 0 1 0 0 0 2
ADCY5 0 0 1 0 0 0 1
ATP6V1F, FLNC, KCP 1 0 0 0 0 0 1
FRMD1 0 0 1 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 296 66 1734 1884 183 0 4163
Fulgent Genetics, Fulgent Genetics 1 2 101 24 3 0 131
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 8
Baylor Genetics 1 3 3 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 0 4 2 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 5 0 0 0 5
OMIM 4 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Phosphorus, Inc. 0 0 1 2 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
School of Medicine, Universitat de Girona 0 0 1 0 0 0 1

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