Variants studied for Mosaic variegated aneuploidy syndrome 2

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	5	303	151	12	481

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
CEP57	12	5	284	142	12	452
CEP57, LOC130006618	1	0	18	9	0	28
CEP57, MTMR2	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	10	4	292	151	12	469
Fulgent Genetics, Fulgent Genetics	1	0	19	0	0	20
Baylor Genetics	1	0	10	0	0	11
OMIM	3	0	0	0	0	3
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	2	0	0	2
Revvity Omics, Revvity	0	0	1	0	0	1
MGZ Medical Genetics Center	0	0	1	0	0	1
Mendelics	0	0	0	0	1	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	0	0	0	1
Centre of Medical Genetics, University of Antwerp	1	0	0	0	0	1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	1	0	0	0	0	1

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