ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1506G>A (p.Pro502=) (rs45579241)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038735 SCV000062413 benign not specified 2012-02-23 criteria provided, single submitter clinical testing Pro502Pro in exon 12 of LDB3: This variant is not expected to have clinical sign ificance because it has been identified in 2.7% (102/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs45579241).
Invitae RCV000477463 SCV000557535 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620864 SCV000735659 benign Cardiovascular phenotype 2015-08-04 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 RCV000769288 SCV000900666 benign Cardiomyopathy 2017-09-25 criteria provided, single submitter clinical testing

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