ClinVar Miner

Submissions for variant NM_001321739.2(M1AP):c.676dup (p.Trp226fs)

gnomAD frequency: 0.00238  dbSNP: rs144217347
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Reproductive Genetics, University of Münster RCV000993647 SCV001146779 pathogenic Non-obstructive azoospermia 2020-05-11 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV002511010 SCV002822673 pathogenic not provided 2022-12-01 criteria provided, single submitter clinical testing M1AP: PVS1, PP4, PS3:Supporting, PS4:Supporting
Revvity Omics, Revvity RCV001267820 SCV004236287 uncertain significance Spermatogenic failure 48 2023-12-18 criteria provided, single submitter clinical testing
Laan Lab, Human Genetics Research Group, University of Tartu RCV003991584 SCV004239157 pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation 2023-09-01 criteria provided, single submitter research
OMIM RCV001267820 SCV001445993 pathogenic Spermatogenic failure 48 2020-11-20 no assertion criteria provided literature only
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV001267820 SCV004041651 pathogenic Spermatogenic failure 48 2023-10-09 no assertion criteria provided clinical testing

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