ClinVar Miner

Submissions for variant NM_032131.6(ARMC2):c.1023+1G>A

dbSNP: rs1562372417
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Total submissions: 3
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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 RCV000755050 SCV000863536 pathogenic Abnormal sperm tail morphology 2018-12-17 no assertion criteria provided clinical testing
OMIM RCV000771003 SCV000902507 pathogenic Spermatogenic failure 38 2019-05-15 no assertion criteria provided literature only
Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes RCV000785789 SCV000924354 pathogenic Male infertility with teratozoospermia due to single gene mutation 2018-12-17 no assertion criteria provided case-control

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