ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6424_6427del (p.Ser2142fs)

dbSNP: rs1064793515
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480906 SCV000566306 pathogenic not provided 2023-04-19 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 330 amino acids are replaced with 3 different amino acids, 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: 33520214, 36232677, 30329210, 21378985)

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