ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met) (rs397517016)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038198 SCV000061865 uncertain significance not specified 2018-05-21 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ambry Genetics RCV000618072 SCV000737541 uncertain significance Cardiovascular phenotype 2016-05-25 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000777972 SCV000914075 uncertain significance Cardiomyopathy 2019-04-08 criteria provided, single submitter clinical testing

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