ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu)

gnomAD frequency: 0.00001  dbSNP: rs1570660422
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Yale Center for Mendelian Genomics, Yale University RCV000845110 SCV000987045 pathogenic Alagille syndrome due to a NOTCH2 point mutation 2014-07-10 no assertion criteria provided literature only

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