ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.3409G>A (p.Val1137Ile) (rs147895473)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756946 SCV000884939 benign not provided 2017-12-12 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038611 SCV000054786 benign not specified 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769376 SCV000900766 benign Cardiomyopathy 2015-09-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038611 SCV000333075 benign not specified 2015-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000038611 SCV000166801 benign not specified 2014-04-17 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 RCV000232431 SCV000288987 benign Dilated cardiomyopathy 1O 2017-12-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038611 SCV000062289 benign not specified 2018-06-04 criteria provided, single submitter clinical testing The p.Val1137Ile variant in ABCC9 is classified as benign because it has been id entified in 2.4% (577/24024) of African American by the Genome Aggregation Datab ase (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs147895473. ACMG/AMP Crite ria Applied: BA1.

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