ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)

dbSNP: rs773656789
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000210463 SCV000266557 pathogenic Lateral meningocele syndrome criteria provided, single submitter research
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268088 SCV001446734 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001268088 SCV002584412 pathogenic not provided 2024-05-01 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 89 amino acids are replaced with 8 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: 27336130, Abreu_2022_Poster, 25394726, 21337686, 9188658)
OMIM RCV000210463 SCV000243860 pathogenic Lateral meningocele syndrome 2015-02-01 no assertion criteria provided literature only
GeneReviews RCV000210463 SCV000282675 not provided Lateral meningocele syndrome no assertion provided literature only

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