ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.5132T>C (p.Leu1711Pro)

dbSNP: rs1570660922
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029862 SCV001192650 uncertain significance Alagille syndrome due to a NOTCH2 point mutation 2019-10-24 no assertion criteria provided clinical testing

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