ClinVar Miner

Submissions for variant NM_001387011.1(AMBRA1):c.239C>T (p.Thr80Met)

gnomAD frequency: 0.00001  dbSNP: rs1328894371
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hongyan Wang Laboratory, Fudan University RCV001078207 SCV001244315 uncertain significance Neural tube defect no assertion criteria provided research

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