ClinVar Miner

Submissions for variant NM_177987.3(TUBB8):c.367G>A (p.Glu123Lys)

dbSNP: rs562343372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001255437 SCV005416284 uncertain significance Oocyte maturation defect 2 criteria provided, single submitter clinical testing PM2_Supporting+PP4
Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University RCV001255437 SCV001431841 likely pathogenic Oocyte maturation defect 2 2020-08-31 no assertion criteria provided case-control

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