ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1678del (p.Asp560fs)

dbSNP: rs727504366
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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, Mass General Brigham Personalized Medicine RCV000154502 SCV000204173 pathogenic Hypertrophic cardiomyopathy 2013-03-05 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Centogene AG - the Rare Disease Company RCV001251170 SCV001426648 pathogenic Hypertrophic cardiomyopathy 4 criteria provided, single submitter clinical testing

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