ClinVar Miner

Variants in gene PDHA2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
1 0 35 0 2 38

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic uncertain significance benign total
not specified 0 34 0 34
not provided 0 1 2 3
Azoospermia 1 0 0 1
Oligosynaptic infertility 1 0 0 1
Spermatogenic failure 70 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic uncertain significance benign total
Ambry Genetics 0 34 0 34
CeGaT Center for Human Genetics Tuebingen 0 0 2 2
OMIM 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 1
Dept of Molecular Biology and Genetics, Bogazici University 1 0 0 1
Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes 1 0 0 1

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