ClinVar Miner

Submissions for variant NM_002440.4(MSH4):c.2222_2225del (p.Lys741fs)

dbSNP: rs1386320504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796650 SCV005415740 pathogenic Spermatogenic failure 2; Premature ovarian failure 20 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PM3
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University RCV001663388 SCV001877115 pathogenic Genetic non-acquired premature ovarian failure 2019-10-01 no assertion criteria provided research
OMIM RCV002260707 SCV002540603 pathogenic Spermatogenic failure 2 2022-07-01 no assertion criteria provided literature only

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