Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV002261471 | SCV002540758 | uncertain significance | Capillary malformation-arteriovenous malformation 2 | 2022-07-07 | criteria provided, single submitter | clinical testing | The variant c.1190G>A (p.(Arg397His)) in exon 6 of the EPHB4-gene is found at a population frequency of 0.0035% in the gnomAD database, it affects a weakly conserved nucleotide, a moderately conserved amino acid within a protein domain and there is a small physicochemical difference between Arg and His. ACMG criteria used for classification: PM2. |