ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.8859C>T (p.Arg2953=)

gnomAD frequency: 0.00009  dbSNP: rs779450120
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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 RCV001424251 SCV001626845 likely benign Familial acute necrotizing encephalopathy 2022-03-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000960761 SCV001930215 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000960761 SCV001969191 likely benign not provided no assertion criteria provided clinical testing

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