Variants studied for Episodic pain syndrome, familial, 2

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
2	0	97	17	14	2	131

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	not provided	total
SCN10A	2	86	14	8	2	111
LOC110121288, SCN10A	0	11	3	6	0	20

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	0	66	17	2	0	85
Genome-Nilou Lab	0	0	0	12	0	12
Revvity Omics, Revvity	0	9	0	0	0	9
Department of Pathology and Laboratory Medicine, Sinai Health System	0	9	0	0	0	9
MGZ Medical Genetics Center	0	4	0	0	0	4
Baylor Genetics	0	3	0	0	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	3	0	0	0	3
Institute of Human Genetics, University of Leipzig Medical Center	0	3	0	0	0	3
OMIM	2	0	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	2	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	2	2
Institute of Human Genetics, Cologne University	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	0	1	0	0	0	1
Clinical Genomics Laboratory, Washington University in St. Louis	0	1	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	1	0	0	0	1
Clinical Genomics Laboratory, Stanford Medicine	0	1	0	0	0	1
New York Genome Center	0	1	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	1	0	0	0	1

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