ClinVar Miner

Variants in gene SLC32A1

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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 total
7 8 62 1 1 70

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Inborn genetic diseases 0 0 29 0 0 29
not provided 0 1 22 0 1 24
Generalized epilepsy with febrile seizures plus 0 4 4 0 0 8
Generalized epilepsy with febrile seizures plus, type 12 4 0 2 0 0 6
Seizure; Intellectual disability 0 3 1 0 0 4
Developmental and epileptic encephalopathy 114 3 0 0 0 0 3
Developmental and epileptic encephalopathy 0 0 2 0 0 2
Obesity; Generalized-onset seizure; Mild global developmental delay 0 0 1 0 0 1
SLC32A1-related epilepsy 0 0 1 0 0 1
not specified 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 29 0 0 29
GeneDx 0 1 15 0 0 16
Neurogenetics Research Program, University of Adelaide 0 4 4 0 0 8
OMIM 7 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 3 4 0 0 6
Labcorp Genetics (formerly Invitae), Labcorp 0 0 3 0 1 4
CeGaT Center for Human Genetics Tuebingen 0 0 4 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 1 1

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