Variants in gene combination LOC126860131, RELN

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)
		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	total
0	1	27	43	7	70

Condition and significance breakdown #

Total conditions: 8

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Condition	likely pathogenic	uncertain significance	likely benign	benign	total
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	0	16	37	5	58
not provided	0	7	7	2	15
Inborn genetic diseases	0	6	0	0	6
not specified	0	0	2	3	4
Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	0	3	0	0	3
Norman-Roberts syndrome	0	2	1	0	3
RELN-related disorder	1	1	0	0	2
Lissencephaly, Recessive	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	0	16	38	5	59
GeneDx	0	3	4	2	9
Ambry Genetics	0	6	0	0	6
Athena Diagnostics	0	2	0	2	4
Eurofins Ntd Llc (ga)	0	2	1	1	4
Illumina Laboratory Services, Illumina	0	2	2	0	4
CeGaT Center for Human Genetics Tuebingen	0	2	2	0	4
Genetic Services Laboratory, University of Chicago	0	0	2	0	2
PreventionGenetics, part of Exact Sciences	1	1	0	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	0	2	0	0	2
Clinical Genetics, Academic Medical Center	0	0	1	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	1	0	0	1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	0	1	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	1
Breakthrough Genomics, Breakthrough Genomics	0	0	1	0	1

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