ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.813A>G (p.Pro271=)

gnomAD frequency: 0.00003  dbSNP: rs370562413
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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 RCV001392610 SCV001594255 likely benign Dilated cardiomyopathy 1J 2022-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416072 SCV002680277 likely benign Cardiovascular phenotype 2018-12-03 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 RCV004707455 SCV005225776 likely benign not provided criteria provided, single submitter not provided

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