ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) (rs372331627)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171998 SCV000054757 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038741 SCV000062419 likely benign not specified 2015-06-11 criteria provided, single submitter clinical testing p.Ile558Val in exon 9 of LDB3: This variant is not expected to have clinical sig nificance because it has been identified in 0.3% (40/12734) South Asian chromoso mes by the Exome Aggregation Consortium (ExAC,; d bSNP rs372331627).
GeneDx RCV000038741 SCV000236009 likely benign not specified 2017-06-08 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.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852622 SCV000995326 likely benign Arrhythmogenic right ventricular cardiomyopathy 2019-03-18 criteria provided, single submitter clinical testing
Mendelics RCV000988404 SCV001138109 uncertain significance Myofibrillar myopathy, ZASP-related 2019-05-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170179 SCV001332729 benign Cardiomyopathy 2017-11-30 criteria provided, single submitter clinical testing

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