ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.505+5G>C

dbSNP: rs727503219
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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, Mass General Brigham Personalized Medicine RCV000497448 SCV000198972 likely pathogenic Hypertrophic cardiomyopathy 2019-01-18 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Center for Human Genetics, University of Leuven RCV000497448 SCV000579518 likely pathogenic Hypertrophic cardiomyopathy 2017-02-09 criteria provided, single submitter clinical testing ACMG score likely pathogenic
Blueprint Genetics RCV000788714 SCV000927924 likely pathogenic not provided 2018-09-11 criteria provided, single submitter clinical testing

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