ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr) (rs199476310)

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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 RCV000036322 SCV000059974 likely pathogenic Primary dilated cardiomyopathy 2014-11-11 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Leiden Muscular Dystrophy (TPM1) RCV000024587 SCV000045896 not provided not provided 2012-04-15 no assertion provided curation

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