ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468774 SCV002764857 likely pathogenic Seizure; Inguinal hernia; Hemangioma; Nephrocalcinosis; Stroke disorder 2020-12-04 criteria provided, single submitter clinical testing

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