ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2565-21A>G

gnomAD frequency: 0.64504  dbSNP: rs7097776
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698553 SCV001916707 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779323 SCV002015953 benign Dilated cardiomyopathy 1KK 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779324 SCV002015954 benign MYPN-related myopathy 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001698553 SCV005318801 benign not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724386 SCV001956839 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001724386 SCV001974668 benign not specified no assertion criteria provided clinical testing

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