ClinVar Miner

Variants in gene SLC12A5

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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 risk factor total
23 1 181 108 18 2 324

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Early infantile epileptic encephalopathy 34 23 1 173 84 18 0 297
not provided 0 0 7 39 0 0 46
Early infantile epileptic encephalopathy 34; Epilepsy, idiopathic generalized, susceptibility to, 14 0 0 4 0 0 0 4
Epilepsy, idiopathic generalized, susceptibility to, 14 0 0 3 0 0 2 4
Microcephaly 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 12 1 165 103 18 0 299
GeneReviews 11 0 0 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 7 0 0 9
Baylor Genetics 0 0 8 0 0 0 8
OMIM 3 0 0 0 0 2 5
GeneDx 0 0 3 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 1 0 0 3
Mendelics 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 1
Department of Medical Genetics,University of Pecs 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1

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