ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) (rs138073811)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030408 SCV000053077 likely benign Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036647 SCV000060302 benign not specified 2015-03-24 criteria provided, single submitter clinical testing p.Asn3418Asn in exon 71 of RYR2: This variant is not expected to have clinical s ignificance because it has been identified in 0.9% (104/11788) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs138073811).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036647 SCV000232395 benign not specified 2015-01-17 criteria provided, single submitter clinical testing
Invitae RCV000225908 SCV000285685 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242203 SCV000318760 likely benign Cardiovascular phenotype 2016-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000030408 SCV000900157 benign Cardiomyopathy 2017-01-09 criteria provided, single submitter clinical testing
Color RCV000030408 SCV000902731 likely benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing

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