ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1105A>G (p.Ser369Gly)

gnomAD frequency: 0.00001  dbSNP: rs181700296
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718904 SCV000720831 likely benign not provided 2024-08-08 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852619 SCV000995323 likely benign Cardiomyopathy; Long QT syndrome 2018-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001442974 SCV001645931 likely benign Myofibrillar myopathy 4 2023-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160090 SCV003859935 likely benign Cardiovascular phenotype 2022-12-19 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330825 SCV004038178 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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