ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.536+10C>T (rs141219516)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769749 SCV000901171 benign Cardiomyopathy 2016-06-24 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608566 SCV000733994 likely benign Dilated cardiomyopathy 1AA no assertion criteria provided clinical testing
GeneDx RCV000036913 SCV000166845 benign not specified 2014-02-12 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000608566 SCV000743805 benign Dilated cardiomyopathy 1AA 2016-10-19 criteria provided, single submitter clinical testing
Invitae RCV000456466 SCV000563575 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2017-12-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036913 SCV000060568 benign not specified 2012-04-10 criteria provided, single submitter clinical testing 536+10C>T in Intron 05 of ACTN2: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence and h as been identified in 1.6% (58/3738) of African American chromosomes from a broa d population by the NHLBI Exome Sequencing Project ( /EVS; dbSNP rs141219516).

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