Variants studied for Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

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
216	98	776	704	53	2	1845

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
SCN2A	211	98	771	704	53	2	1835
SCN2A, SCN3A	2	0	1	0	0	0	3
CSRNP3, GALNT3, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B	1	0	1	0	0	0	2
CSRNP3, GALNT3, SCN1A, SCN2A, SCN9A, TTC21B	1	0	1	0	0	0	2
LOC120977013, LOC129935043, SCN2A, SCN3A	0	0	2	0	0	0	2
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	215	92	768	704	53	0	1832
Fulgent Genetics, Fulgent Genetics	2	0	8	0	0	0	10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	4	0	0	0	5
Génétique des Maladies du Développement, Hospices Civils de Lyon	1	2	1	0	0	0	4
New York Genome Center	0	0	3	0	0	0	3
Center for Molecular Medicine, Children’s Hospital of Fudan University	0	2	0	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Mayo Clinic Laboratories, Mayo Clinic	0	0	2	0	0	0	2
Baylor Genetics	0	1	0	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	1	0	0	0	1

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