ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.1918_1919insCTT (p.Lys640delinsThrTer)

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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 RCV004797393 SCV005416902 likely pathogenic Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2 criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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