ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.728T>C (p.Met243Thr)

gnomAD frequency: 0.00457  dbSNP: rs139151870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534686 SCV000646838 benign Familial acute necrotizing encephalopathy 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000602236 SCV000731184 benign not specified 2017-03-03 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.
Breakthrough Genomics, Breakthrough Genomics RCV004708937 SCV005246483 benign not provided criteria provided, single submitter not provided

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