ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly)

dbSNP: rs146937374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002275253 SCV002564227 uncertain significance Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2 2021-10-23 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849632 SCV002106543 association Vein of Galen aneurysmal malformation 2018-12-18 no assertion criteria provided literature only

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