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
52 22 1006 1082 120 1 2169

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 29 16 549 651 61 1 1250
MYH11, NDE1 18 6 452 431 59 0 909
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: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 44 14 864 1042 99 0 2063
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 14 0 0 0 14
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
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 1 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 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
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 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, Medical Genetics 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 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
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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