ClinVar Miner

Variants studied for Aortic aneurysm, familial thoracic 4

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
57 27 1156 1221 121 1 2468

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 34 19 639 744 63 1 1442
MYH11, NDE1 18 8 512 477 58 0 1016
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: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 49 19 1021 1181 100 0 2370
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 4 0 18
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 0 1 7 2 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 6 0 0 0 6
MGZ Medical Genetics Center 0 0 6 0 0 0 6
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 5 0 0 0 5
Mendelics 2 0 1 1 1 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
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 1 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
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 0 2 0 0 0 2
KardioGenetik, Herz- und Diabeteszentrum NRW 0 1 1 0 0 0 2
3billion 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 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
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
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
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 1

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