Variants studied for Myofibrillar myopathy 4

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	not provided	total
11	2	605	307	54	1	963

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
LDB3	9	1	543	270	46	0	860
LDB3, LOC110121486	2	1	59	37	8	1	100
LDB3, LOC110121486, LOC130004243, LOC132089876	0	0	2	0	0	0	2
BMPR1A, LDB3	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	10	1	575	300	51	0	937
Illumina Laboratory Services, Illumina	1	0	31	7	0	0	39
OMIM	3	0	0	0	0	0	3
Mendelics	0	0	0	0	3	0	3
GeneReviews	0	0	0	0	0	1	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	1	0	0	0	0	1

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