ClinVar Miner

Variants studied for Mosaic variegated aneuploidy syndrome 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
61 9 466 277 32 835

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BUB1B 53 8 381 244 25 704
BUB1B, BUB1B-PAK6 5 1 72 29 6 110
BUB1B, LOC130056830 0 0 12 4 1 17
MAD1L1 2 0 0 0 0 2
BUB1B, PAK6 0 0 1 0 0 1
CEP57 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 48 6 460 275 30 819
OMIM 11 0 0 0 0 11
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 10 0 0 11
Mendelics 0 0 1 2 3 6
Baylor Genetics 0 0 5 0 0 5
Genome-Nilou Lab 0 0 0 0 4 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
3billion 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 1
Laboratorio de Inmunogenómica y enfermedades metabólicas, Instituto Nacional de Medicina Genómica, Instituto Nacional de Medicina Genómica 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1

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