ClinVar Miner

Variants studied for Imerslund-Grasbeck 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 not provided total
78 92 565 771 171 5 1655

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CUBN 51 56 482 395 140 3 1111
AMN 20 28 58 288 24 1 412
AMN, LOC130056554 3 5 11 62 1 0 81
AMN, LOC130056553 1 1 2 15 2 0 20
CUBN, LOC126860871 1 1 4 7 2 0 15
CUBN, LOC129390143 0 0 7 4 2 0 13
AMN, CDC42BPB, LOC130056553 1 1 0 0 0 1 1
AMN, LOC126862065, LOC130056550, LOC130056551, LOC130056552, LOC130056553, LOC130056554, TRAF3 1 0 0 0 0 0 1
CACNB2, CUBN, HACD1, SLC39A12, ST8SIA6, STAM, TRDMT1, VIM 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 77 32 544 771 168 0 1592
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 49 0 0 0 0 49
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 9 10 0 0 0 22
Illumina Laboratory Services, Illumina 0 0 8 0 0 0 8
SingHealth Duke-NUS Institute of Precision Medicine 0 2 3 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 3 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 2 0 0 0 0 3
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 3 3
Mendelics 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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