ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1108-10A>G (rs397516564)

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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 RCV000036865 SCV000060520 uncertain significance not specified 2013-01-04 criteria provided, single submitter clinical testing The 1108-10A>G variant in ACTN2 has not been reported in the literature nor prev iously identified by our laboratory. This variant has also not been identified i n large and broad European American and African American populations by the NHLB I Exome Sequencing Project (http://evs.gs.washington.edu/EVS). A presence in oth er populations cannot be excluded. This variant is located in the 3' splice regi on. Computational tools do suggest an impact to splicing but their accuracy is u nknown. Additional information is needed to fully assess the clinical significan ce of the 1108-10A>G variant.

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