Variants studied for Naxos disease

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
25	8	576	380	35	971

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	total
JUP	25	8	573	380	34	967
JUP, LOC130060847	0	0	3	0	1	4

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	21	6	493	369	31	920
Illumina Laboratory Services, Illumina	0	0	95	9	5	109
Fulgent Genetics, Fulgent Genetics	0	0	88	12	0	100
OMIM	5	0	0	0	0	5
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	5	0	0	5
Genome-Nilou Lab	0	0	0	0	5	5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	3	0	0	3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	2	0	0	0	2
New York Genome Center	0	0	2	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1

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