ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.1314T>C (p.Ser438=)

dbSNP: rs144173
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001712847 SCV001159491 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664610 SCV001876070 benign Capillary malformation-arteriovenous malformation 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664609 SCV001876071 benign Lymphatic malformation 7 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001712847 SCV001941720 benign not provided 2018-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001712847 SCV002371988 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382242 SCV002694673 benign Cardiovascular phenotype 2018-12-04 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV001712847 SCV005268194 benign not provided criteria provided, single submitter not provided

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