ClinVar Miner

Submissions for variant NM_007078.3(LDB3):c.1231+24G>A

gnomAD frequency: 0.00986  dbSNP: rs45477098
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001724417 SCV005221825 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702019 SCV001931235 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724417 SCV001954445 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702019 SCV001967967 benign not specified no assertion criteria provided clinical testing

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