ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.2555G>A (p.Arg852Gln) (rs727502888)

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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,Partners HealthCare Personalized Medicine RCV000150154 SCV000197039 uncertain significance not specified 2014-08-21 criteria provided, single submitter clinical testing The Arg852Gln variant in ACTN2 has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis suggest that the Arg852Gln variant may impact the p rotein, though this information is not predictive enough to determine pathogenic ity. In summary, the clinical significance of the Arg852Gln variant is uncertain .
Invitae RCV000461706 SCV000553773 likely benign not provided 2019-02-19 criteria provided, single submitter clinical testing

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