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 risk factor not provided total
4 1 160 53 30 7 3 213

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Epilepsy juvenile absence; Juvenile myoclonic epilepsy 0 0 76 11 19 0 0 105
Juvenile myoclonic epilepsy 2 0 50 20 10 0 1 77
not provided 2 1 52 7 3 0 2 61
not specified 0 0 9 23 24 0 0 40
Myoclonic epilepsy, juvenile 1 1 0 1 0 0 5 0 7
Epilepsy juvenile absence 0 0 0 0 0 2 0 2
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 1 0 73 11 19 0 0 104
Illumina Clinical Services Laboratory,Illumina 0 0 50 20 3 0 0 72
GeneDx 2 1 41 8 15 0 2 69
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 10 5 7 0 0 22
Genetic Services Laboratory, University of Chicago 1 0 9 9 1 0 0 20
Athena Diagnostics Inc 0 0 4 2 12 0 0 18
OMIM 0 0 1 0 0 7 0 8
PreventionGenetics 0 0 0 2 5 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 6 0 0 0 6
Fulgent Genetics,Fulgent Genetics 0 0 5 0 0 0 0 5
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 0 0 0 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 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 1

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