ClinVar Miner

Variants studied for familial episodic pain syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
9 2 832 388 75 7 1302

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SCN11A 6 2 706 360 50 4 1119
SCN10A 2 0 77 14 8 2 102
LOC126806652, SCN11A 0 0 30 11 1 1 42
LOC110121288, SCN10A 0 0 10 3 6 0 19
MSC, TRPA1 0 0 5 0 8 0 13
TRPA1 0 0 2 0 2 0 4
LOC126860417, MSC, TRPA1 1 0 1 0 0 0 2
SCN10A, SCN11A, SCN5A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 2 0 735 369 49 0 1155
Fulgent Genetics, Fulgent Genetics 0 0 65 19 2 0 86
Genome-Nilou Lab 0 0 0 0 27 0 27
Revvity Omics, Revvity 0 0 11 0 0 0 11
OMIM 7 0 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
Baylor Genetics 0 0 5 0 0 0 5
MGZ Medical Genetics Center 0 0 5 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1

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