ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.789C>T (p.Cys263=) (rs58386780)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000038623 SCV000166785 benign not specified 2014-01-24 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.
Integrated Genetics/Laboratory Corporation of America RCV000029282 SCV000051928 benign Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Invitae RCV000476248 SCV000561923 benign Dilated cardiomyopathy 1O 2018-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038623 SCV000062301 benign not specified 2009-07-08 criteria provided, single submitter clinical testing

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