ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.1141A>C (p.Ser381Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004598407 SCV005091193 uncertain significance Alagille syndrome due to a NOTCH2 point mutation 2024-05-07 criteria provided, single submitter clinical testing ACMG Criteria: PP3_MOD,PM2_SUP,PP2

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