Variants studied for Congenital 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	total
12	14	14	4	0	44

Gene and significance breakdown #

Total genes and gene combinations: 21

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
RYR1	1	1	4	4	10
ACTA1	2	3	0	0	5
JPH1	1	3	0	0	4
CACNA1S	2	0	1	0	3
TTN	1	1	1	0	3
ASCC3	0	1	1	0	2
FXR1	0	0	2	0	2
MYO15B	0	0	2	0	2
ALG14	1	0	0	0	1
ALG14, LOC129930989	1	0	0	0	1
CHRNA1	1	0	0	0	1
DNA2	0	0	1	0	1
EXOSC3	1	0	0	0	1
GH-LCR, SCN4A	0	1	0	0	1
LOC120893173, LOC122149342, LOC122149343, LOC122149344, LOC126805978, LOC129388729, PPP1R12B, SYT2	0	0	1	0	1
MHRT, MYH7	0	1	0	0	1
MYH7	0	1	0	0	1
MYPN	0	1	0	0	1
SRPK3	1	0	0	0	1
STAC3	0	1	0	0	1
TNNT3	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
CSER _CC_NCGL, University of Washington	0	0	4	4	8
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	1	6	0	8
Harry Perkins Institute Of Medical Research, University Of Western Australia	1	6	0	0	7
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire	5	1	0	0	6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	1	0	3
Center for Genetic Medicine Research, Children's National Medical Center	0	2	0	0	2
Genetics and Molecular Pathology, SA Pathology	0	1	1	0	2
Kariminejad - Najmabadi Pathology & Genetics Center	0	0	2	0	2
Neurogenetics, Research Centre for Medical Genetics	2	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	1	0	0	1
Clinical Genetics Laboratory, Skane University Hospital Lund	1	0	0	0	1
Lildballe Lab, Aarhus University Hospital	0	1	0	0	1

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