Variants studied for cap myopathy

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
13	13	168	85	10	4	280

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
TPM3	13	13	168	85	10	4	280

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	10	9	60	72	5	0	156
Illumina Laboratory Services, Illumina	0	0	102	12	4	0	118
OMIM	4	0	0	0	0	0	4
GeneReviews	0	0	0	0	0	4	4
Baylor Genetics	0	0	2	0	0	0	2
Mendelics	0	2	0	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	0	2	0	0	0	2
MGZ Medical Genetics Center	0	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	1	0	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
Center for Genetic Medicine Research, Children's National Medical Center	0	1	0	0	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	0	1

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