ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn) (rs28938173)

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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 RCV000211739 SCV000062588 likely pathogenic Hypertrophic cardiomyopathy 2018-01-03 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
OMIM RCV000007252 SCV000027448 pathogenic Familial hypertrophic cardiomyopathy 6 2002-02-01 no assertion criteria provided literature only

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