ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2016C>T (p.Cys672=)

gnomAD frequency: 0.00288  dbSNP: rs45578640
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Total submissions: 14
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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 RCV000038748 SCV000062426 benign not specified 2010-07-23 criteria provided, single submitter clinical testing Cys672Cys in exon 15 of the LDB3 gene: This variant does not not alter an amino acid residue and is not located near a splice junction. Although some base chang es that do not result in amino acid changes can be associated with disease, this variant occurs in ~1% of the general population; rs45578640) and is therefore m ost likely benign.
Invitae RCV001081462 SCV000289621 benign Myofibrillar myopathy 4 2024-01-29 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000038748 SCV000306363 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000038748 SCV000336655 benign not specified 2015-10-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590797 SCV000698754 benign not provided 2016-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619718 SCV000735052 likely benign Cardiovascular phenotype 2015-05-04 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000590797 SCV001472673 benign not provided 2022-03-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000590797 SCV001747547 benign not provided 2023-04-01 criteria provided, single submitter clinical testing LDB3: BP4, BP7, BS1, BS2
GeneDx RCV000590797 SCV001758958 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000590797 SCV001742127 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000038748 SCV001923424 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000590797 SCV001932494 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038748 SCV001958917 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038748 SCV001967100 benign not specified no assertion criteria provided clinical testing

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