Variants studied for Norman-Roberts syndrome; Familial temporal lobe epilepsy 7

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
53	19	1484	1566	202	2	3316

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
RELN	44	15	1169	1200	161	2	2582
RELN, SLC26A5	7	3	251	276	27	0	563
LOC126860130, RELN, SLC26A5	1	1	44	53	8	0	107
LOC126860131, RELN	0	0	19	37	6	0	62
DNAJC2, PMPCB, PSMC2, RELN, SLC26A5	1	0	1	0	0	0	2

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	53	17	1470	1566	202	0	3308
Fulgent Genetics, Fulgent Genetics	0	2	6	0	0	0	8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	6	0	0	0	6
New York Genome Center	0	0	4	0	0	0	4
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	2	0	0	0	2
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	0	1

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