ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) (rs121908108)

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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 RCV000154782 SCV000204462 likely benign not specified 2017-01-27 criteria provided, single submitter clinical testing p.Ala95Glu in exon 3 of MYLK2: This variant is not expected to have clinical sig nificance because it has been identified in 0.8% (75/9276) of African chromosome s by the Exome Aggregation Consortium (ExAC,; dbS NP rs121908108).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154782 SCV000229245 likely benign not specified 2015-04-09 criteria provided, single submitter clinical testing
GeneDx RCV000154782 SCV000236026 likely benign not specified 2017-02-01 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 RCV000467194 SCV000556767 benign Familial hypertrophic cardiomyopathy 1 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170850 SCV001333470 benign Cardiomyopathy 2017-11-09 criteria provided, single submitter clinical testing
OMIM RCV000004466 SCV000024639 pathogenic Cardiomyopathy, hypertrophic, midventricular, digenic 2001-11-30 no assertion criteria provided literature only

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