ClinVar Miner

Variants in gene GJA5

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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
9 0 164 73 9 241

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic uncertain significance likely benign benign total
Atrial standstill 1; Atrial fibrillation, familial, 11 3 123 61 4 191
not provided 0 29 6 7 40
Atrial fibrillation, familial, 11 5 25 1 0 31
Inborn genetic diseases 0 15 2 0 17
Familial atrial fibrillation 0 3 7 0 10
Chromosome 1q21.1 deletion syndrome; Atrial standstill 1; Atrial fibrillation, familial, 11 0 2 0 0 2
not specified 0 1 0 1 2
Atrial fibrillation 0 1 0 0 1
Atrial fibrillation, somatic 1 0 0 0 1
GJA5-related disorder 0 0 1 0 1
See cases 0 0 1 0 1
Wolff-Parkinson-White pattern 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 3 123 61 4 191
Illumina Laboratory Services, Illumina 0 27 8 0 35
GeneDx 0 23 0 5 28
Ambry Genetics 0 15 2 0 17
Breakthrough Genomics, Breakthrough Genomics 0 2 5 3 10
OMIM 5 0 0 0 5
Bionano Laboratories 0 2 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 1 1 2
Baylor Genetics 1 0 0 0 1
Revvity Omics, Revvity 0 1 0 0 1
PreventionGenetics, part of Exact Sciences 0 0 1 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 1 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 1
ISCA Site 6 0 0 1 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 1 0 0 1
Lildballe Lab, Aarhus University Hospital 0 1 0 0 1

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