ClinVar Miner

Submissions for variant NM_177987.3(TUBB8):c.922G>A (p.Gly308Ser)

gnomAD frequency: 0.00001  dbSNP: rs782575307
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001290509 SCV001478470 pathogenic Oocyte maturation defect 2 2021-02-09 no assertion criteria provided clinical testing

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