ClinVar Miner

Variants studied for Spermatogenic failure 18

Coded as:
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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
12 5 3 0 3 23

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
DNAH1 9 1 2 3 15
DNAH3 2 4 0 0 6
CFAP251, LOC124849266 1 0 0 0 1
PSMD12 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance benign total
Institute of Reproductive and Stem Cell Engineering, Central South University 2 4 0 0 6
OMIM 5 0 0 0 5
Genome-Nilou Lab 0 0 0 3 3
Baylor Genetics 0 0 2 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 2 0 0 0 2
Invitae 1 0 0 0 1
Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes 1 0 0 0 1
New York Genome Center 0 0 1 0 1

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