ClinVar Miner

Submissions for variant NM_001387011.1(AMBRA1):c.2920A>G (p.Met974Val)

gnomAD frequency: 0.00002  dbSNP: rs761423550
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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 RCV001078210 SCV001244318 uncertain significance Neural tube defect no assertion criteria provided research

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