ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6325A>G (p.Lys2109Glu)

dbSNP: rs1649072477
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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 RCV001329961 SCV001521531 uncertain significance Alagille syndrome due to a NOTCH2 point mutation 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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