ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) (rs794727410)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176615 SCV000228300 uncertain significance not provided 2015-01-09 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415043 SCV000492736 uncertain significance Primary dilated cardiomyopathy; Epicanthus; Lambdoidal craniosynostosis; Delayed speech and language development; Delayed gross motor development; Sagittal craniosynostosis; Muscular ventricular septal defect 2015-05-12 criteria provided, single submitter clinical testing

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