ClinVar Miner

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

gnomAD frequency: 0.00941  dbSNP: rs45579241
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 Myofibrillar myopathy 4 2021-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620864 SCV000735659 benign Cardiovascular phenotype 2015-08-04 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769288 SCV000900666 benign Cardiomyopathy 2017-09-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001529064 SCV001157542 benign not provided 2023-11-06 criteria provided, single submitter clinical testing
GeneDx RCV001529064 SCV001861085 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529064 SCV001741887 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000038735 SCV001921328 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038735 SCV001967489 benign not specified no assertion criteria provided clinical testing

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