ClinVar Miner

Variants studied for Loeys-Dietz syndrome

Coded as:
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Gene type:
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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
12 34 292 165 37 533

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TGFBR1 4 5 162 96 13 277
SMAD3 0 7 63 33 8 111
TGFBR2 6 15 42 32 9 100
TGFB2 1 4 11 3 3 22
LOC129936399, TGFBR2 0 0 2 0 1 3
LOC130057352, SMAD3 0 0 0 1 2 3
TGFB2, TGFB2-OT1 0 0 2 0 1 3
COL3A1 0 1 1 0 0 2
FBN1 1 0 1 0 0 2
FBN2 0 0 2 0 0 2
LOC130002223, TGFBR1 0 0 2 0 0 2
ABCA3 0 1 0 0 0 1
COL5A1, LOC101448202 0 0 1 0 0 1
COL5A2 0 0 1 0 0 1
MYH11 0 0 1 0 0 1
MYLK 0 0 1 0 0 1
TGFB3 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 171 106 31 308
All of Us Research Program, National Institutes of Health 0 1 104 60 3 168
Blueprint Genetics 0 12 7 0 0 19
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 8 1 0 4 18
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 9 0 0 0 14
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 1 5 0 0 8
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 4 2 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 1

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