ClinVar Miner

Submissions for variant NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs)

dbSNP: rs1562381747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000771006 SCV000902510 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 RCV000785792 SCV000924357 pathogenic Male infertility with teratozoospermia due to single gene mutation 2018-12-17 no assertion criteria provided case-control

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