ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.8C>T (p.Ala3Val)

dbSNP: rs200646249
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733725 SCV001984554 likely benign Alagille syndrome due to a NOTCH2 point mutation 2020-07-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711713 SCV005261586 likely benign not provided criteria provided, single submitter not provided

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