ClinVar Miner

Submissions for variant NM_004100.5(EYA4):c.642A>G (p.Pro214=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002361708 SCV002659565 likely benign Cardiovascular phenotype 2022-04-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003507425 SCV004277917 likely benign Dilated cardiomyopathy 1J 2023-03-26 criteria provided, single submitter clinical testing

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