ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.450C>T (p.Pro150=) (rs377520770)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621818 SCV000737360 likely benign Cardiovascular phenotype 2015-06-16 criteria provided, single submitter clinical testing
Color RCV000777957 SCV000914056 likely benign Cardiomyopathy 2018-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000035628 SCV000170446 benign not specified 2014-02-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035628 SCV000059279 likely benign not specified 2012-04-04 criteria provided, single submitter clinical testing Pro150Pro in exon 4 of MYBPC3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid and is not located in the spli ce consensus sequence. This variant has been identified in 1/6698 European Ameri can chromosomes and 1/3314 African American chromosomes from a broad population by the NHLBI Exome Sequencing Project ( Pro1 50Pro in exon 4 of MYBPC3 (allele frequency = 1/6698) **

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