ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.389G>A (p.Trp130Ter) (rs1584666961)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000852306 SCV000994938 pathogenic Capillary malformation-arteriovenous malformation 2 2019-03-29 criteria provided, single submitter curation This variant is interpreted as a Pathogenic for Capillary malformation-arteriovenous malformation 2. The following ACMG Tag(s) were applied: PM2: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1: Predicted nullvariant in a gene where LOF is a known mechanism of disease. PM6: Assumed de novo, but without confirmation of paternity and maternity.

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