ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.7G>T (p.Ala3Ser)

gnomAD frequency: 0.00218  dbSNP: rs782113557
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202905 SCV000258193 benign not specified 2015-02-13 criteria provided, single submitter clinical testing
GeneDx RCV001640305 SCV001855903 benign not provided 2020-01-05 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731435 SCV001984553 likely benign Alagille syndrome due to a NOTCH2 point mutation 2020-07-19 criteria provided, single submitter clinical testing

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