ClinVar Miner

Submissions for variant NM_020879.3(CCDC146):c.2112del (p.Arg704fs)

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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 RCV003761684 SCV004232657 pathogenic Male infertility with spermatogenesis disorder due to single gene mutation 2024-01-26 no assertion criteria provided clinical testing
Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes RCV003779234 SCV004697442 pathogenic Male infertility due to sperm motility disorder 2024-02-07 no assertion criteria provided clinical testing
OMIM RCV004577042 SCV005060857 pathogenic SPERMATOGENIC FAILURE 94 2024-06-11 no assertion criteria provided literature only

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