ClinVar Miner

Submissions for variant NM_001797.4(CDH11):c.1247C>T (p.Pro416Leu)

gnomAD frequency: 0.00002  dbSNP: rs200234049
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHU Sainte-Justine Research Center, University of Montreal RCV000240310 SCV000299183 likely benign Oromandibular-limb hypogenesis spectrum 2016-08-12 no assertion criteria provided research

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