ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1232-18T>A

gnomAD frequency: 0.00001  dbSNP: rs764158731
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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 RCV002073281 SCV002326497 likely benign Myofibrillar myopathy 4 2021-03-23 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700874 SCV001923896 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700874 SCV001971531 benign not specified no assertion criteria provided clinical testing

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