ClinVar Miner

Variants in gene PLEKHM2

See also:
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 0 459 333 80 867

Condition and significance breakdown #

Total conditions: 4
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Condition uncertain significance likely benign benign total
Dilated Cardiomyopathy, Recessive 427 324 41 792
not specified 91 1 0 92
not provided 4 15 56 75
PLEKHM2-related disorder 2 6 0 8

Submitter and significance breakdown #

Total submitters: 9
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Submitter uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 427 327 41 795
Ambry Genetics 91 1 0 92
GeneDx 0 2 45 47
Breakthrough Genomics, Breakthrough Genomics 1 11 34 46
PreventionGenetics, part of Exact Sciences 2 6 0 8
OMIM 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 1

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