ClinVar Miner

Variants studied for congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

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 not provided total
7 38 32 6 0 1 83

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 not provided total
LRPPRC 7 38 32 6 1 83

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
Counsyl 1 35 25 6 0 67
OMIM 7 0 0 0 0 7
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1

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