ClinVar Miner

Submissions for variant NM_005761.3(PLXNC1):c.3649T>C (p.Cys1217Arg)

gnomAD frequency: 0.00063  dbSNP: rs146747324
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207375 SCV000259120 likely benign Anophthalmia-microphthalmia syndrome 2013-01-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705036 SCV005216230 likely benign not provided criteria provided, single submitter not provided

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