ClinVar Miner

Variants studied for Aortic aneurysm, familial thoracic 4

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
45 19 861 948 120 1 1883

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYH11 26 13 466 563 61 1 1074
MYH11, NDE1 14 6 390 385 59 0 799
LOC113939949, MYH11, NDE1 2 0 5 0 0 0 7
BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1 2 0 0 0 0 0 2
BMERB1, MARF1, MYH11, NDE1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 37 12 723 907 99 0 1778
Illumina Laboratory Services, Illumina 0 0 134 32 36 0 202
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 18 11 0 30
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 21 3 0 24
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 11 8 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 10 4 5 0 19
Genome-Nilou Lab 0 0 0 0 12 0 12
Institute of Human Genetics, University of Leipzig Medical Center 0 1 7 2 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 10
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 7 1 0 0 8
Baylor Genetics 0 0 7 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 7 0 0 0 7
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 0 5 1 0 0 6
MGZ Medical Genetics Center 0 0 6 0 0 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 6 0 0 0 6
Mendelics 2 0 1 1 1 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 5 0 0 0 5
OMIM 4 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 1 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
3billion 0 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 1
Center for Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University 0 1 0 0 0 0 1
KardioGenetik, Herz- und Diabeteszentrum NRW 0 0 1 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1

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