ClinVar Miner

Submissions for variant NM_030662.3(MAP2K2):c.853G>A (p.Asp285Asn) (rs150369301)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000680294 SCV000207964 likely benign not provided 2017-11-28 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 RCV000158029 SCV000604142 uncertain significance not specified 2017-03-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000158029 SCV000709725 uncertain significance not specified 2018-03-06 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: GnomAd 19:4099304 C / T: Total 4/230480; not well conserved Platypus, Naked_mole rat, and Zebra_mbuna(fish) have threonine; Not in Pubmed, Google search or HGMD; VUS by GeneDx in ClinVar; benign by polyphen

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