ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.352G>A (p.Val118Met) (rs35507268)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621725 SCV000736178 likely benign Cardiovascular phenotype 2017-03-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000038756 SCV000051556 benign not specified 2013-06-24 criteria provided, single submitter research
Blueprint Genetics RCV000038756 SCV000212126 likely benign not specified 2015-03-02 no assertion criteria provided research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770140 SCV000901566 benign Cardiomyopathy 2016-08-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038756 SCV000333572 likely benign not specified 2015-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000038756 SCV000170108 benign not specified 2013-02-06 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 RCV000232676 SCV000289623 benign Myofibrillar myopathy, ZASP-related 2017-12-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038756 SCV000062434 likely benign not specified 2015-05-18 criteria provided, single submitter clinical testing p.Val118Met in exon 4 of LDB3: This variant is not expected to have clinical sig nificance because it has been identified in 0.7% (455/63354) of European chromos omes including 1 homozygous individual by the Exome Aggregation Consortium (http ://exac.broadinstitute.org/; dbSNP rs35507268).
PreventionGenetics RCV000038756 SCV000311693 likely benign not specified 2016-04-05 criteria provided, single submitter clinical testing

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