ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.669G>A (p.Ser223=)

gnomAD frequency: 0.00002  dbSNP: rs778089838
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001398391 SCV001600160 likely benign Myofibrillar myopathy 4 2023-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169977 SCV003909129 likely benign Cardiovascular phenotype 2023-01-08 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724310 SCV001951256 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724310 SCV001966316 likely benign not provided no assertion criteria provided clinical testing

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