ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.3768T>C (p.Leu1256=) (rs150303433)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038613 SCV000062291 benign not specified 2012-01-31 criteria provided, single submitter clinical testing Leu1256Leu in exon 30 of ABCC9: This variant is classified as benign based on i ts high frequency in the general population (http://evs.gs.washington.edu/EVS).
GeneDx RCV000038613 SCV000235647 benign not specified 2014-06-16 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 RCV000205996 SCV000261949 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000029280 SCV000900763 benign Cardiomyopathy 2017-03-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029280 SCV000051926 benign Cardiomyopathy 2015-06-04 no assertion criteria provided clinical testing

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