Variants studied for mast 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
11	4	47	28	7	89

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SPG21	11	4	47	28	7	89

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	4	1	20	25	3	53
Illumina Laboratory Services, Illumina	0	0	25	3	3	31
OMIM	6	0	0	0	0	6
Center for Rare Movement Disorders Innsbruck, Medical University Innsbruck	3	0	0	0	0	3
Revvity Omics, Revvity	0	2	0	0	0	2
Molecular Genetics, Royal Melbourne Hospital	0	0	2	0	0	2
Baylor Genetics	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Paris Brain Institute, Inserm - ICM	1	0	0	0	0	1

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