ClinVar Miner

Variants in gene combination LOC126807246, PDLIM3

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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 not provided total
0 0 19 19 7 1 40

Condition and significance breakdown #

Total conditions: 6
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Condition uncertain significance likely benign benign not provided total
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 16 8 4 0 28
not specified 5 7 4 0 14
not provided 1 5 5 1 10
PDLIM3-related disorder 1 2 0 0 3
Cardiovascular phenotype 0 0 1 0 1
Restrictive cardiomyopathy 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 16 8 4 0 28
GeneDx 0 6 5 0 11
Ambry Genetics 5 4 1 0 10
Breakthrough Genomics, Breakthrough Genomics 0 1 5 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 3 0 3
PreventionGenetics, part of Exact Sciences 1 2 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 1 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 1 0 2
Leiden Muscular Dystrophy (PDLIM3) 0 0 0 1 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 1
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 1 0 0 1

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