ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1547G>T (p.Cys516Phe)

dbSNP: rs2046897026
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288524 SCV001475689 pathogenic not provided 2019-09-24 criteria provided, single submitter clinical testing The variant disrupts a cysteine residue in an EGF-like repeat domain, which is important for the structure of this protein. Therefore it is expected to severely affect the function of the protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.

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