ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2587C>T (p.Pro863Ser)

dbSNP: rs1650362306
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336624 SCV001530054 likely pathogenic Alagille syndrome due to a NOTCH2 point mutation 2018-05-02 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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