ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.278-4G>A

gnomAD frequency: 0.00005  dbSNP: rs201806127
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000860932 SCV001001115 likely benign Dilated cardiomyopathy 1J 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001547471 SCV001767185 likely benign not provided 2023-07-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002434056 SCV002748268 likely benign Cardiovascular phenotype 2022-04-25 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.
Breakthrough Genomics, Breakthrough Genomics RCV001547471 SCV005225773 likely benign not provided criteria provided, single submitter not provided

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