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)
		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
15	4	215	220	28	3	482

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
CNTN1	15	4	215	220	28	3	482

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	14	4	214	220	27	0	479
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	3	3
Revvity Omics, Revvity	0	0	2	0	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	0	1	1	0	2
OMIM	1	0	0	0	0	0	1
Baylor Genetics	0	0	1	0	0	0	1
Mendelics	0	0	0	0	1	0	1
Genome-Nilou Lab	0	0	0	0	1	0	1

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