ClinVar Miner

Variants in gene EFHC1

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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 association risk factor not provided total
4 1 264 106 32 1 7 3 360

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Juvenile myoclonic epilepsy; Typical absence seizures 0 0 134 56 22 0 0 0 212
Juvenile myoclonic epilepsy 2 0 51 20 10 1 0 1 79
not provided 2 1 53 17 4 0 0 2 73
Epilepsy, juvenile absence, susceptibility to, 1; Juvenile myoclonic epilepsy 0 0 47 3 0 0 0 0 50
not specified 0 0 10 23 24 0 0 0 41
Myoclonic Epilepsy, Juvenile, 1 1 0 1 0 0 0 5 0 7
Epilepsy, juvenile absence, susceptibility to, 1 0 0 2 0 0 0 2 0 4
none provided 0 0 2 0 0 0 0 0 2
See cases 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 1 0 175 64 22 0 0 0 261
Illumina Clinical Services Laboratory,Illumina 0 0 50 20 3 0 0 0 72
GeneDx 2 1 41 8 15 0 0 2 69
Athena Diagnostics Inc 0 0 6 3 13 0 0 0 22
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 10 5 7 0 0 0 22
Genetic Services Laboratory, University of Chicago 1 0 9 9 1 0 0 0 20
OMIM 0 0 1 0 0 0 7 0 8
PreventionGenetics, PreventionGenetics 0 0 0 2 5 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 6 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 0 0 5 0 0 0 0 0 5
Baylor Genetics 1 0 2 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 0 0 0 0 0 2
Cell and Molecular Biology Laboratory,University of the Punjab Lahore 0 0 1 0 0 1 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 0 1

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