ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1975-12C>T (rs371352710)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123523 SCV000166861 benign not specified 2014-04-24 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 RCV000123523 SCV000710890 likely benign not specified 2017-06-01 criteria provided, single submitter clinical testing c.1975-12C>T in intron 16 of ACTN2: This variant is not expected to have clinica l significance because a C>T change at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing. It has b een identified in 20/24030 African chromosomes by the Genome Aggregation Databas e (gnomAD,; dbSNP rs371352710).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000600382 SCV000734010 likely benign Dilated cardiomyopathy 1AA no assertion criteria provided clinical testing

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