ClinVar Miner

Variants studied for Amyloidogenic transthyretin amyloidosis

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 not provided total
54 15 64 16 14 2 152

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTR 54 15 63 13 12 2 146
TTN 0 0 0 1 1 0 2
DSC1, DSC2, DSG1, DSG2, DSG3, DSG4, TTR 0 0 1 0 0 0 1
MYBPC3 0 0 0 0 1 0 1
MYL3 0 0 0 1 0 0 1
PKP2 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 27 9 49 8 8 0 101
OMIM 39 0 0 0 0 0 39
Illumina Clinical Services Laboratory,Illumina 2 0 15 5 7 0 29
Integrated Genetics/Laboratory Corporation of America 15 3 0 1 1 0 20
Mendelics 5 1 2 1 0 0 9
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 4 2 0 0 0 1 7
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 1 0 0 4 2 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Amyloidosis Center,Boston University School of Medicine 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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