ClinVar Miner

Submissions for variant NM_024867.4(SPEF2):c.4102G>T (p.Glu1368Ter)

gnomAD frequency: 0.00001  dbSNP: rs1230916222
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000993861 SCV001147019 pathogenic Spermatogenic failure 43 2020-01-27 no assertion criteria provided literature only

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