ClinVar Miner

Variants studied for cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Included ClinVar conditions (1):
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 total
10 0 32 9 7 58

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign total
LTBP4 10 32 9 7 58

Submitter and significance breakdown #

Total submitters: 7
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 32 9 5 46
OMIM 8 0 0 0 8
GeneReviews 1 0 0 4 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 5 5
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 5 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 0 0 0 1

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