ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.1137C>T (p.Thr379=)

gnomAD frequency: 0.00002  dbSNP: rs151245774
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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 RCV001427381 SCV001630058 likely benign Dilated cardiomyopathy 1J 2023-05-22 criteria provided, single submitter clinical testing
GeneDx RCV001847272 SCV002104402 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533, 26582918)
Ambry Genetics RCV004616727 SCV005120154 likely benign Cardiovascular phenotype 2024-06-21 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.

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