Variants studied for congenital myopathy 23

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
8	4	16	6	8	1	41

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
TPM2	8	4	16	6	8	1	41

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	12	4	8	0	24
OMIM	7	0	0	0	0	0	7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	0	0	0	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	0	2	0	0	2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	1	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	0	1
MGZ Medical Genetics Center	1	0	0	0	0	0	1
GeneReviews	0	0	0	0	0	1	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Center for Genetic Medicine Research, Children's National Medical Center	0	1	0	0	0	0	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	1	0	0	0	0	0	1
NeuroMeGen, Hospital Clinico Santiago de Compostela	0	1	0	0	0	0	1
Breda Genetics srl	1	0	0	0	0	0	1
3billion, Medical Genetics	1	0	0	0	0	0	1

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