ClinVar Miner

Variants in gene combination LOC110121288, SCN10A

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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 total
0 0 135 103 25 229

Condition and significance breakdown #

Total conditions: 7
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Condition uncertain significance likely benign benign total
Brugada syndrome 79 54 15 148
Cardiovascular phenotype 56 49 10 115
not provided 26 22 10 57
Episodic pain syndrome, familial, 2 10 3 6 19
not specified 2 5 13 17
Inborn genetic diseases 6 2 0 8
SCN10A-related condition 1 2 0 3

Submitter and significance breakdown #

Total submitters: 17
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Submitter uncertain significance likely benign benign total
Invitae 79 56 15 150
Ambry Genetics 62 51 10 123
GeneDx 23 15 20 58
Clinical Genetics, Academic Medical Center 0 2 12 14
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 5 9 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 4 8 12
Fulgent Genetics, Fulgent Genetics 7 3 1 11
PreventionGenetics, part of Exact Sciences 1 2 6 9
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 6 6
CeGaT Center for Human Genetics Tuebingen 2 2 2 6
Genome-Nilou Lab 0 0 5 5
Mayo Clinic Laboratories, Mayo Clinic 3 0 0 3
Revvity Omics, Revvity 2 0 0 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 2 0 0 2
Baylor Genetics 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 0 1

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