ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1041C>A (p.Ser347=)

dbSNP: rs45555240
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030114 SCV000052769 benign Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038715 SCV000062393 benign not specified 2008-03-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000038715 SCV000311689 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000456667 SCV000557541 benign Myofibrillar myopathy 4 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620203 SCV000735298 benign Cardiovascular phenotype 2015-06-26 criteria provided, single submitter clinical testing This alteration is classified as 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.
Athena Diagnostics RCV000038715 SCV001476526 benign not specified 2024-10-16 criteria provided, single submitter clinical testing
GeneDx RCV001682711 SCV001896825 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682711 SCV005317606 benign not provided criteria provided, single submitter not provided
Cytogenetics- Mohapatra Lab, Banaras Hindu University RCV001293332 SCV001481920 uncertain significance Dilated cardiomyopathy 1C 2015-02-10 no assertion criteria provided case-control
Clinical Genetics, Academic Medical Center RCV000038715 SCV001923081 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038715 SCV001968221 benign not specified no assertion criteria provided clinical testing

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