ClinVar Miner

Submissions for variant NM_000258.3(MYL3):c.129+54_129+55del

gnomAD frequency: 0.00277  dbSNP: rs544241793
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723506 SCV001959353 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001728002 SCV001969352 benign not specified no assertion criteria provided clinical testing

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