ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.2091C>T (p.Cys697=)

gnomAD frequency: 0.00001  dbSNP: rs571356142
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Total submissions: 8
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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 RCV000156743 SCV000206464 likely benign not specified 2015-03-12 criteria provided, single submitter clinical testing p.Cys697Cys in exon 15 of LDB3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (22/16038) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs571356142).
GeneDx RCV001699046 SCV000714082 likely benign not provided 2021-09-08 criteria provided, single submitter clinical testing
Invitae RCV001523559 SCV001733281 benign Myofibrillar myopathy 4 2024-01-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000156743 SCV002500517 benign not specified 2022-03-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415678 SCV002730251 likely benign Cardiovascular phenotype 2021-03-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Clinical Genetics, Academic Medical Center RCV001699046 SCV001917982 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699046 SCV001927789 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699046 SCV001975977 likely benign not provided no assertion criteria provided clinical testing

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