ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.7021C>T (p.Gln2341Ter)

dbSNP: rs2526104121
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003325706 SCV004031595 pathogenic not provided 2023-03-03 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 131 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30980954)

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