ClinVar Miner

Submissions for variant NM_001102592.2(HENMT1):c.226G>A (p.Gly76Arg)

gnomAD frequency: 0.00001  dbSNP: rs1383002765
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes RCV001797578 SCV002039177 pathogenic Azoospermia 2021-12-20 no assertion criteria provided case-control

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