ClinVar Miner

Submissions for variant NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu)

gnomAD frequency: 0.00009  dbSNP: rs886037884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004692877 SCV005194244 uncertain significance not provided criteria provided, single submitter not provided
CHU Sainte-Justine Research Center, University of Montreal RCV000240033 SCV000299199 uncertain significance Oromandibular-limb hypogenesis spectrum 2016-08-12 no assertion criteria provided research

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