ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.3321C>T (p.Ile1107=) (rs35404804)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029279 SCV000051925 benign Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038610 SCV000062288 benign not specified 2009-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000038610 SCV000166800 benign not specified 2014-03-05 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 RCV000205103 SCV000262076 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246184 SCV000318944 benign Cardiovascular phenotype 2015-07-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000029279 SCV000900768 benign Cardiomyopathy 2016-04-22 criteria provided, single submitter clinical testing

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