ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.609G>A (p.Ser203=)

gnomAD frequency: 0.01554  dbSNP: rs45531131
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Total submissions: 11
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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 RCV000038763 SCV000062441 benign not specified 2008-06-10 criteria provided, single submitter clinical testing
Invitae RCV000227191 SCV000289627 benign Myofibrillar myopathy 4 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621639 SCV000735946 benign Cardiovascular phenotype 2015-09-09 criteria provided, single submitter clinical testing This alteration is classified as 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770146 SCV000901572 benign Cardiomyopathy 2016-04-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001596946 SCV001159522 benign not provided 2023-08-16 criteria provided, single submitter clinical testing
GeneDx RCV001596946 SCV001831205 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000038763 SCV001923373 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038763 SCV001958193 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038763 SCV001964615 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000038763 SCV001977986 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001596946 SCV002036419 likely benign not provided no assertion criteria provided clinical testing

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