ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.2302-3C>A (rs727505174)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156656 SCV000206377 uncertain significance not specified 2014-07-09 criteria provided, single submitter clinical testing The 2302-3C>A variant in ACTN2 has not been previously reported in individuals w ith cardiomyopathy or in large population studies. This variant is located in th e 3' splice region. Computational tools suggest an possible impact to splicing. However, this information is not predictive enough to determine pathogenicity. I n summary, the clinical significance of the 2302-3C>A variant is uncertain.

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