ClinVar Miner

Variants in gene combination ACADVL, DLG4

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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
0 3 19 3 2 25

Condition and significance breakdown #

Total conditions: 4
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Condition likely pathogenic uncertain significance likely benign benign total
Very long chain acyl-CoA dehydrogenase deficiency 3 18 2 2 24
not specified 0 0 1 2 3
not provided 0 1 0 1 2
Primary familial hypertrophic cardiomyopathy 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter likely pathogenic uncertain significance likely benign benign total
Counsyl 3 15 0 0 18
Illumina Clinical Services Laboratory,Illumina 0 3 1 1 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 2 3
Invitae 0 0 1 1 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 1
GeneDx 0 0 1 0 1
PreventionGenetics 0 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 1
GeneReviews 0 0 0 1 1
Blueprint Genetics, 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1

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