ClinVar Miner

Submissions for variant NM_020639.3(RIPK4):c.1681G>A (p.Val561Met)

gnomAD frequency: 0.00006  dbSNP: rs773070455
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001007777 SCV001167461 uncertain significance Bartsocas-Papas syndrome 1 no assertion criteria provided research

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