ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu)

dbSNP: rs864621995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753456 SCV001988584 uncertain significance not provided 2020-01-29 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22892539, 27886618)
OMIM RCV000043544 SCV000071257 pathogenic Dilated cardiomyopathy 1KK 2013-03-01 no assertion criteria provided literature only
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000043544 SCV000244012 uncertain significance Dilated cardiomyopathy 1KK 2013-06-27 no assertion criteria provided literature only

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