ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.682G>A (p.Val228Ile)

gnomAD frequency: 0.00048  dbSNP: rs146902369
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002175929 SCV002474928 likely benign not provided 2022-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161660 SCV003913037 likely benign Cardiovascular phenotype 2023-02-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV002175929 SCV005685839 uncertain significance not provided 2024-07-23 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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