Variants studied for Congenital myopathy with internal nuclei and atypical cores

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
1	1	272	210	30	2	511

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
CCDC78	1	1	272	210	30	2	511

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	0	0	265	210	27	0	502
Revvity Omics, Revvity	0	0	8	0	0	0	8
Genome-Nilou Lab	0	0	0	0	5	0	5
Fulgent Genetics, Fulgent Genetics	0	0	3	0	0	0	3
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
OMIM	1	0	0	0	0	0	1
Baylor Genetics	0	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	0	1
Genetics Laboratory, Department of Biology, Semnan University	0	0	1	0	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	1	0	0	0	1

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