ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.4351C>G (p.Leu1451Val) (rs876657917)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216878 SCV000272171 uncertain significance not specified 2015-06-22 criteria provided, single submitter clinical testing The p.Leu1451Val variant in MYOM1 has not been previously reported in individual s with cardiomyopathy or in large population studies. Computational prediction t ools and conservation analysis do not provide strong support for or against an i mpact to the protein. In summary, the clinical significance of the p.Leu1451Val variant is uncertain.

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