ClinVar Miner

Submissions for variant NM_080675.4(SUN5):c.1066C>T (p.Arg356Cys)

gnomAD frequency: 0.00003  dbSNP: rs754130052
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001172141 SCV001335103 likely pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000258695 SCV005415932 likely pathogenic Spermatogenic failure 16 criteria provided, single submitter clinical testing PM2_Supporting+PM3+PP4+PP3_Moderate
OMIM RCV000258695 SCV000328518 pathogenic Spermatogenic failure 16 2016-11-07 no assertion criteria provided literature only

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