ClinVar Miner

Variants in gene CACNB4

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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 total
2 0 174 81 72 2 262

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic uncertain significance likely benign benign risk factor total
Episodic ataxia, type 5 1 72 1 55 0 128
Juvenile myoclonic epilepsy 0 42 49 13 0 103
Idiopathic generalized epilepsy 0 58 20 6 0 84
not provided 0 34 9 3 0 40
not specified 0 10 12 21 0 36
Episodic ataxia 0 12 4 2 0 18
Epilepsy, idiopathic generalized 9 1 1 0 0 1 3
Epilepsy, idiopathic generalized 9; Episodic ataxia, type 5 0 3 0 0 0 3
CACNB4-Related Disorders 0 1 0 0 0 1
Epilepsy, juvenile myoclonic 6 0 0 0 0 1 1
See cases 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 86 49 57 0 147
Invitae 0 58 23 7 0 88
GeneDx 0 19 7 15 0 41
Athena Diagnostics Inc 0 15 5 13 0 33
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 8 2 5 0 15
Genetic Services Laboratory, University of Chicago 0 2 4 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 4 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 3 0 0 0 3
OMIM 1 0 0 0 2 2
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 1 0 0 0 1
Mendelics 0 1 0 0 0 1

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