ClinVar Miner

Variants studied for mosaic variegated aneuploidy syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
90 18 744 410 46 1291

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BUB1B 56 10 382 246 25 708
CEP57 12 5 252 122 12 400
BUB1B, BUB1B-PAK6 5 1 73 29 6 111
CEP57, LOC130006618 1 0 17 9 0 27
BUB1B, LOC130056830 0 0 12 4 1 17
TRIP13 2 1 3 0 2 8
MAD1L1 4 0 1 0 0 5
SLF2 5 0 0 0 0 5
SMC5 3 0 0 0 0 3
CENATAC 2 0 0 0 0 2
ANKRD63, BAHD1, BMF, BUB1B, C15orf62, CCDC32, CCDC9B, CHAC1, CHP1, CHST14, DISP2, DLL4, DNAJC17, EIF2AK4, EXD1, FAM98B, FSIP1, GCHFR, GPR176, INO80, ITPKA, IVD, KNL1, KNSTRN, LINC02694, LINC02915, LTK, MAPKBP1, MGA, NDUFAF1, NUSAP1, OIP5, PAK6, PHGR1, PLCB2, PPP1R14D, RAD51, RASGRP1, RHOV, RMDN3, RPAP1, RPUSD2, RTF1, SPINT1, SPRED1, SRP14, THBS1, TYRO3, VPS18, ZFYVE19 0 0 1 0 0 1
BUB1B, BUB1B-PAK6, LOC129390686, LOC130056830, LOC130056831 0 0 1 0 0 1
BUB1B, BUB1B-PAK6, PAK6 0 1 0 0 0 1
BUB1B, PAK6 0 0 1 0 0 1
CEP57, MTMR2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 60 10 725 406 42 1243
OMIM 28 0 0 0 0 28
Fulgent Genetics, Fulgent Genetics 0 0 19 2 0 21
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 4 16 0 0 20
Baylor Genetics 1 0 17 0 0 18
Mendelics 0 0 1 2 4 7
Genome-Nilou Lab 0 0 0 0 6 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 4
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
Revvity Omics, Revvity 0 0 1 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 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
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center 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
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 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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