ClinVar Miner

Variants studied for ALDH18A1-related de Barsy syndrome

Included ClinVar conditions (3):
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
8 3 17 5 8 1 41

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ALDH18A1 8 3 17 5 8 1 41

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 2 0 16 4 7 0 29
OMIM 6 0 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1 0 2
Fulgent Genetics 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1

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