ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.7751A>G (p.Asp2584Gly)

gnomAD frequency: 0.00036  dbSNP: rs138022657
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514609 SCV000610214 uncertain significance not provided 2017-03-20 criteria provided, single submitter clinical testing
Invitae RCV001084294 SCV001100440 likely benign Familial acute necrotizing encephalopathy 2022-08-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514609 SCV001501300 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing

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