ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.744A>G (p.Ser248=)

dbSNP: rs397516879
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037880 SCV000061542 likely benign not specified 2013-01-08 criteria provided, single submitter clinical testing Ser248Ser in exon 10 of EYA4: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV000206248 SCV000261461 likely benign Dilated cardiomyopathy 1J 2023-08-17 criteria provided, single submitter clinical testing

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