ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2339C>T (p.Pro780Leu)

gnomAD frequency: 0.00418  dbSNP: rs61758802
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434550 SCV000522407 benign not specified 2016-03-22 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.
Invitae RCV000553569 SCV000646782 benign Familial acute necrotizing encephalopathy 2023-11-27 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573051 SCV001798356 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000434550 SCV001929577 benign not specified no assertion criteria provided clinical testing

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