Variants studied for seizures-scoliosis-macrocephaly syndrome

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
13	7	44	3	1	64

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
EXT2	12	7	41	3	1	60
EXT2, LOC126861201	1	0	3	0	0	4

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	5	2	39	3	0	49
OMIM	6	0	0	0	0	6
Juno Genomics, Hangzhou Juno Genomics, Inc	3	0	0	0	0	3
Centogene AG - the Rare Disease Company	0	2	0	0	0	2
Mayo Clinic Laboratories, Mayo Clinic	0	0	2	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	2	0	0	2
Baylor Genetics	0	0	1	0	0	1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	1
Marseille Medical Genetics, U1251, Aix Marseille University, Inserm	0	1	0	0	0	1
Genomic Medicine Lab, University of California San Francisco	0	1	0	0	0	1
New York Genome Center	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1

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