ClinVar Miner

Variants studied for ATTRV122I amyloidosis

Included ClinVar conditions (4):
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
62 20 75 26 15 1 186

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTR 62 20 73 23 12 1 178
TTN 0 0 0 1 1 0 2
DSC1, DSC2, DSG1, DSG2, DSG3, DSG4, TTR 0 0 1 0 0 0 1
DSG2, 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
TNNI3 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 36 15 59 17 8 0 135
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 16 3 0 1 1 0 21
Mendelics 5 1 2 1 0 0 9
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 1 0 0 4 3 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 5 2 0 0 0 0 7
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 4 1 0 0 6
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Amyloidosis Center,Boston University School of Medicine 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Reproductive Health Research and Development,BGI Genomics 1 0 0 0 0 0 1

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