ClinVar Miner

Variants studied for developmental and epileptic encephalopathy, 53

Included ClinVar conditions (2):
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 not provided total
37 8 634 612 45 1 1330

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SYNJ1 37 8 630 612 45 1 1326
CFAP298, SYNJ1 0 0 2 0 0 0 2
ATP5PO, CFAP298, CLIC6, CRYZL1, DNAJC28, DONSON, EPCIP, EVA1C, GART, HUNK, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE1, KCNE2, MIS18A, MRAP, MRPS6, OLIG1, OLIG2, PAXBP1, RCAN1, RUNX1, SCAF4, SLC5A3, SMIM11, SOD1, SON, SYNJ1, TCP10L, TIAM1, TMEM50B, URB1 0 0 1 0 0 0 1
CFAP298, CFAP298-TCP10L, LOC125418061, LOC130066544, LOC130066545, SYNJ1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 32 8 629 609 44 0 1322
OMIM 4 0 0 0 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
3billion, Medical Genetics 0 0 0 2 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Section for Clinical Neurogenetics, University of Tübingen 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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