Variants studied for Compton-North 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)

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
18	6	223	283	30	3	558

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
CNTN1	18	6	222	283	30	3	557
intergenic	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	16	5	220	282	29	0	552
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	3	3
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	1	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	0	1	1	0	2
OMIM	2	0	0	0	0	0	2
Revvity Omics, Revvity	0	0	2	0	0	0	2
Baylor Genetics	0	0	1	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1
MVZ Martinsried, Medicover Genetics	0	0	1	0	0	0	1
Mendelics	0	0	0	0	1	0	1
Variantyx, Inc.	0	1	0	0	0	0	1

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