ClinVar Miner

Variants studied for aortic aneurysm, familial thoracic 4

Included ClinVar conditions (2):
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 not provided total
8 2 225 67 41 2 328

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYH11 5 1 121 36 21 2 175
MYH11, NDE1 3 1 96 31 20 0 145
LOC113939949, MYH11, NDE1 0 0 8 0 0 0 8

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 2 198 32 10 0 244
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 9 33 0 48
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 18 11 0 30
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 22 3 0 25
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 1 12 8 0 21
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 7 1 0 0 8
Fulgent Genetics,Fulgent Genetics 0 0 8 0 0 0 8
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
OMIM 4 0 0 0 0 0 4
Mendelics 0 0 1 1 1 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 3 0 3
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 1 0 2
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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