ClinVar Miner

Variants studied for Lafora disease

Included ClinVar conditions (2):
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
16 0 47 18 8 85

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic uncertain significance likely benign benign total
NHLRC1 9 41 17 5 69
EPM2A 6 2 0 1 9
EPM2A, LOC100507557 1 4 1 2 7

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic uncertain significance likely benign benign total
Invitae 2 20 9 3 34
Illumina Clinical Services Laboratory,Illumina 1 21 8 1 31
OMIM 14 0 0 0 14
GeneReviews 6 1 0 1 8
Fulgent Genetics 1 3 0 0 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 1 2 4
Athena Diagnostics Inc 0 0 0 2 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 1 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 1

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