Variants studied for Myofibrillar myopathy 3

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
7	3	206	124	22	1	341

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	not provided	total
MYOT, PKD2L2-DT	7	3	205	124	22	1	340
MYOT	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	5	0	172	117	15	0	309
Revvity Omics, Revvity	3	1	39	1	0	0	44
Illumina Laboratory Services, Illumina	0	0	24	9	12	0	39
OMIM	7	0	0	0	0	0	7
Fulgent Genetics, Fulgent Genetics	1	0	2	1	0	0	4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	3	0	3
Athena Diagnostics	0	0	0	0	2	0	2
MGZ Medical Genetics Center	1	1	0	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	1	0	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1
GeneReviews	0	0	0	0	0	1	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1
Human Genetics Bochum, Ruhr University Bochum	0	0	1	0	0	0	1

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