ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.3163C>T (p.Pro1055Ser)

gnomAD frequency: 0.00290  dbSNP: rs140860785
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960108 SCV001107056 benign Familial acute necrotizing encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001701380 SCV004148976 benign not provided 2022-03-01 criteria provided, single submitter clinical testing RANBP2: BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701380 SCV001926501 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701380 SCV001963637 likely benign not provided no assertion criteria provided clinical testing

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