ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.935C>T (p.Ser312Phe) (rs786205457)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220380 SCV000272195 uncertain significance not specified 2015-12-04 criteria provided, single submitter clinical testing The p.Ser312Phe variant in MYPN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Ser312Phe variant is un certain.
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171175 SCV000221372 likely pathogenic not provided no assertion criteria provided research

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