ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1848C>T (p.Asp616=) (rs61001398)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250298 SCV000317820 benign Cardiovascular phenotype 2016-03-26 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,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770405 SCV000901847 benign Cardiomyopathy 2016-06-09 criteria provided, single submitter clinical testing
GeneDx RCV000038588 SCV000166791 benign not specified 2014-01-15 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.
Illumina Clinical Services Laboratory,Illumina RCV000347953 SCV000377519 likely benign Hypertrichotic osteochondrodysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391695 SCV000377520 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308201 SCV000377521 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000232717 SCV000288979 benign Dilated cardiomyopathy 1O 2018-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038588 SCV000062266 benign not specified 2009-06-06 criteria provided, single submitter clinical testing

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