ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2925+20A>C

gnomAD frequency: 0.00005  dbSNP: rs200111945
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429119 SCV000516092 benign not specified 2015-11-20 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810905 SCV001471429 likely benign not provided 2020-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061612 SCV002453989 likely benign Dilated cardiomyopathy 1KK 2023-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506023 SCV002810603 likely benign Dilated cardiomyopathy 1KK; MYPN-related myopathy 2021-08-05 criteria provided, single submitter clinical testing

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