ClinVar Miner

Submissions for variant NM_000258.2(MYL3):c.411G>T (p.Leu137=) (rs2233265)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619082 SCV000736434 likely benign Cardiovascular phenotype 2017-07-12 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 RCV000769167 SCV000900542 likely benign Cardiomyopathy 2016-08-23 criteria provided, single submitter clinical testing
Color RCV000769167 SCV000903815 benign Cardiomyopathy 2018-10-08 criteria provided, single submitter clinical testing
Invitae RCV000629040 SCV000749951 benign Hypertrophic cardiomyopathy 2017-12-21 criteria provided, single submitter clinical testing

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