ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) (rs776410552)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000722057 SCV000994943 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: PM2-Supporting: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. 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. PP3: Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM6: Assumed de novo, but without confirmation of paternity and maternity.
OMIM RCV000722057 SCV000853237 pathogenic Capillary malformation-arteriovenous malformation 2 2018-11-21 no assertion criteria provided literature only

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