ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3142C>T (p.Arg1048Cys) (rs11570113)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617909 SCV000736193 uncertain significance Cardiovascular phenotype 2017-12-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626632 SCV000747333 uncertain significance Hypertrophic cardiomyopathy 2017-01-01 criteria provided, single submitter clinical testing

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