ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.-2+9C>T

gnomAD frequency: 0.00900  dbSNP: rs75716608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127078 SCV000170630 benign not specified 2014-03-26 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.
Fulgent Genetics, Fulgent Genetics RCV002505093 SCV002813183 benign Dilated cardiomyopathy 1KK; MYPN-related myopathy 2022-02-23 criteria provided, single submitter clinical testing

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