ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.342G>A (p.Leu114=) (rs199572927)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036395 SCV000060050 likely benign not specified 2008-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000036395 SCV000170566 benign not specified 2014-01-22 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.
Invitae RCV000467703 SCV000560090 likely benign Familial hypertrophic cardiomyopathy 10 2020-12-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170436 SCV001333016 likely benign Cardiomyopathy 2018-02-02 criteria provided, single submitter clinical testing
Color Health, Inc RCV001170436 SCV001341202 likely benign Cardiomyopathy 2019-05-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036395 SCV001362508 benign not specified 2019-10-30 criteria provided, single submitter clinical testing

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