ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1971C>T (p.Cys657=)

gnomAD frequency: 0.00025  dbSNP: rs140552419
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Total submissions: 7
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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 RCV000038747 SCV000062425 likely benign not specified 2016-04-27 criteria provided, single submitter clinical testing p.Cys657Cys in exon 14 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 11/66394 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs140552419).
GeneDx RCV000867236 SCV000515769 likely benign not provided 2021-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618465 SCV000736614 likely benign Cardiovascular phenotype 2016-06-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003502513 SCV001008439 likely benign Myofibrillar myopathy 4 2025-01-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000038747 SCV004122347 benign not specified 2023-10-23 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000038747 SCV001918236 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000867236 SCV001957661 likely benign not provided no assertion criteria provided clinical testing

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