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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
4	3	18	2	0	27

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
FLNC	4	3	16	2	25
ADCY5	0	0	1	0	1
FRMD1	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Baylor Genetics	0	3	3	0	6
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	5	0	5
OMIM	4	0	0	0	4
Phosphorus, Inc.	0	0	1	2	3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	2	0	2
MGZ Medical Genetics Center	0	0	1	0	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	0	0	1	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	1
Genomic Medicine Lab, University of California San Francisco	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	1
School of Medicine, Universitat de Girona	0	0	1	0	1

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