ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn)

dbSNP: rs112835359
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539349 SCV000646801 likely benign Familial acute necrotizing encephalopathy 2022-12-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000539349 SCV001521019 uncertain significance Familial acute necrotizing encephalopathy 2020-01-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729635 SCV001977846 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729635 SCV001980432 likely benign not provided no assertion criteria provided clinical testing

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