ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)

gnomAD frequency: 0.00080  dbSNP: rs138951890
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Total submissions: 11
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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 RCV000171997 SCV000051399 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000038736 SCV000062414 likely benign not specified 2018-02-02 criteria provided, single submitter clinical testing p.Gln512Pro in exon 12 of LDB3: This variant is not expected to have clinical si gnificance because it has been identified in 0.29% of Finnish chromosomes by the Genome Aggregation Database (gnomAD; http://gnomad.broadinstitute.org; dbSNP rs 138951890). Computational tools predict that this variant impacts protein functi on but this evidence is insufficient to override the high minor allele frequency . ACMG/AMP Criteria applied: BS1, PP3
GeneDx RCV000171997 SCV000236004 benign not provided 2021-04-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780, 27896284, 20474083, 23861362, 17097056, 30847666)
Invitae RCV000988403 SCV000581399 likely benign Myofibrillar myopathy 4 2021-11-22 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000171997 SCV000700770 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619692 SCV000737327 likely benign Cardiovascular phenotype 2019-04-09 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000623075 SCV000740593 uncertain significance Primary familial dilated cardiomyopathy 2016-08-29 criteria provided, single submitter clinical testing
Mendelics RCV000988403 SCV001138108 uncertain significance Myofibrillar myopathy 4 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000171997 SCV001150626 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170178 SCV001332728 benign Cardiomyopathy 2018-01-22 criteria provided, single submitter clinical testing
Cytogenetics- Mohapatra Lab, Banaras Hindu University RCV001293341 SCV001481929 likely benign Dilated cardiomyopathy 1C 2014-08-16 no assertion criteria provided case-control

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