ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.919G>A (p.Gly307Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004797105 SCV005417532 uncertain significance Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2 criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PP4

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