ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1460-14T>A

gnomAD frequency: 0.00096  dbSNP: rs201156035
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214837 SCV000270581 likely benign not specified 2016-01-12 criteria provided, single submitter clinical testing c.1460-14T>A variant in intron 8 of MYPN: This variant is not expected to have c linical significance because it has been identified in 0.3% (31/11518) of Latino chromosomes and 0.1% (65/65978) of European chromosomes by the Exome Aggregatio n Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201156035).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000613102 SCV000743684 benign Dilated cardiomyopathy 1KK 2016-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001537218 SCV001754072 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV000613102 SCV002370751 benign Dilated cardiomyopathy 1KK 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500698 SCV002812398 likely benign Dilated cardiomyopathy 1KK; MYPN-related myopathy 2022-04-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000214837 SCV004038570 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000613102 SCV000732947 likely benign Dilated cardiomyopathy 1KK no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000214837 SCV001917702 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000214837 SCV001959837 benign not specified no assertion criteria provided clinical testing

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