ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) (rs764827256)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000852325 SCV000994960 likely pathogenic Capillary malformation-arteriovenous malformation 2 2019-03-29 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Capillary malformation-arteriovenous malformation 2. The following ACMG Tag(s) were applied: PM1: Located in a mutational hot spot and/or critical and well-established functional domain (e.g.,active site of an enzyme) without benign variation. PS3: Well-established functional studies show a deleterious effect.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092660 SCV001249271 pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000852325 SCV001736720 likely pathogenic Capillary malformation-arteriovenous malformation 2 2021-04-12 criteria provided, single submitter clinical testing

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