ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.246-8T>A

gnomAD frequency: 0.00002  dbSNP: rs750671538
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001408600 SCV001610602 likely benign Myofibrillar myopathy 4 2024-07-02 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724314 SCV001954783 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726548 SCV001965917 benign not specified no assertion criteria provided clinical testing

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