ClinVar Miner

Variants studied for Ehlers-Danlos syndrome progeroid type

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
15 0 23 10 10 3 56

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic uncertain significance likely benign benign not provided total
B3GALT6 7 12 3 5 0 27
B4GALT7 8 9 7 5 3 27
ACAP3, AGRN, B3GALT6, C1QTNF12, C1orf159, INTS11, ISG15, MIR200A, MIR200B, MIR429, PUSL1, RNF223, SCNN1D, SDF4, TNFRSF18, TNFRSF4, TTLL10, UBE2J2 0 1 0 0 0 1
B3GALT6, SDF4, TNFRSF4 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic uncertain significance likely benign benign not provided total
Invitae 0 20 9 7 0 36
OMIM 14 0 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 3 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 2 0 3
Fulgent Genetics,Fulgent Genetics 0 2 0 0 0 2
Daryl Scott Lab,Baylor College of Medicine 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 0 2
Mendelics 0 0 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 0 0 1
Division of Biology and Genetics,University of Brescia 1 0 0 0 0 1

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