ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2623C>T (p.His875Tyr)

dbSNP: rs1555120949
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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 RCV000604681 SCV000712079 uncertain significance not specified 2016-05-16 criteria provided, single submitter clinical testing The p.His875Tyr variant in MYBPC3 has not been previously reported in individual s with cardiomyopathy and data from large population studies is insufficient to assess the frequency of this variant. This variant was predicted to be benign us ing a computational tool clinically validated by our laboratory. This tool's ben ign prediction is estimated to be correct 89% of the time (Jordan 2011). In summ ary, the clinical significance of the p.His875Tyr variant is uncertain.
Blueprint Genetics RCV000788957 SCV000928259 uncertain significance not provided 2019-03-02 criteria provided, single submitter clinical testing

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