ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.615+15C>T (rs369293885)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000615612 SCV000745222 benign Dilated cardiomyopathy 1AA 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000615612 SCV000733995 likely benign Dilated cardiomyopathy 1AA no assertion criteria provided clinical testing
GeneDx RCV000154679 SCV000533347 likely benign not specified 2016-11-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154679 SCV000204357 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.615+15C>T in Intron 06 of ACTN2: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1/7020 European American chromosomes from a broad popula tion by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).

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