ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.335T>G (p.Leu112Trp) (rs868781965)

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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 RCV000223172 SCV000272170 uncertain significance not specified 2015-03-19 criteria provided, single submitter clinical testing The p.Leu112Trp variant in MYOM1 has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis do not provide strong support for or against an im pact to the protein. In summary, the clinical significance of the p.Leu112Trp va riant is uncertain.

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