ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3075+20C>T

gnomAD frequency: 0.00001  dbSNP: rs377273417
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432205 SCV000531850 likely benign not specified 2016-09-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000604706 SCV000745063 benign Dilated cardiomyopathy 1KK 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000604706 SCV002456683 likely benign Dilated cardiomyopathy 1KK 2021-12-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000604706 SCV000732957 likely benign Dilated cardiomyopathy 1KK no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000432205 SCV001925297 benign not specified no assertion criteria provided clinical testing

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