Variants studied for neurofibromatosis, familial spinal

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
43	13	246	126	59	474

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
NF1	41	13	226	124	59	450
LOC111811965, MIR4733HG, NF1	1	0	20	2	0	23
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LRRC37B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	31	12	142	84	0	269
Illumina Laboratory Services, Illumina	0	0	107	24	29	160
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	0	0	23	39	62
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	6	0	4	0	1	11
OMIM	5	0	0	0	0	5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	1	1	0	0	0	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	0	0	0	1
Molecular Genetics Lab, CHRU Brest	1	0	0	0	0	1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital	1	0	0	0	0	1

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