ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3301C>T (p.Pro1101Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289224 SCV002579131 uncertain significance Alagille syndrome due to a NOTCH2 point mutation 2022-04-20 criteria provided, single submitter clinical testing

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