ClinVar Miner

Variants studied for Mosaic variegated aneuploidy syndrome 1

Coded as:
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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
71 14 510 306 32 921

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BUB1B 63 12 416 267 25 774
BUB1B, BUB1B-PAK6 5 1 80 34 6 123
BUB1B, LOC130056830 0 0 12 5 1 18
MAD1L1 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, PAK6 0 1 0 0 0 1
BUB1B, PAK6 0 0 1 0 0 1
CEP57 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 55 7 505 304 30 901
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 4 17 0 0 22
OMIM 11 0 0 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
3billion 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 2
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
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 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

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