ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.622+4C>T (rs201020802)

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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 RCV000621833 SCV000735700 likely benign Cardiovascular phenotype 2018-04-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
GeneDx RCV000152642 SCV000515242 benign not specified 2015-06-17 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.
Invitae RCV000469624 SCV000559730 benign Dilated cardiomyopathy 1W 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152642 SCV000201976 benign not specified 2017-10-23 criteria provided, single submitter clinical testing c.622+4C>T in intron 5 of VCL: This variant is not expected to have clinical sig nificance because it has been identified in 0.6% (148/24030) of African chromoso mes by the Genome Aggregation Database (gnomAD, ). BA1

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