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
9 23 244 142 54 465

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SMAD3 0 2 79 39 13 133
TGFBR1 5 3 61 39 10 115
TGFBR2 3 14 49 37 13 112
TGFB2 0 3 42 17 11 73
TGFB2, TGFB2-OT1 0 0 5 10 7 22
COL3A1 0 1 1 0 0 2
FBN1 1 0 1 0 0 2
FBN2 0 0 2 0 0 2
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

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 226 141 52 419
Blueprint Genetics, 0 12 7 0 0 19
Integrated Genetics/Laboratory Corporation of America 3 5 1 0 4 13
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 1 5 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 4 3 0 0 0 7
Division of Genomic Diagnostics,The 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
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 1

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