ClinVar Miner

Variants studied for Shwachman syndrome

Coded as:
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
15 0 5 1 4 22

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign benign total
SBDS 12 5 1 4 19
SRP54 3 0 0 0 3

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic uncertain significance likely benign benign total
GeneReviews 9 0 0 4 13
SIB Swiss Institute of Bioinformatics 0 5 0 1 6
OMIM 4 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 1 1 3
Molecular ImmunoRheumatology UMRS_1109,Institut national de la santé et de la recherche médicale 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 2 2
Illumina Clinical Services Laboratory,Illumina 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 0 1

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