ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs) (rs773656789)

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Total submissions: 3
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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 RCV000210463 SCV000266557 pathogenic Lateral meningocele syndrome criteria provided, single submitter research
OMIM RCV000210463 SCV000243860 pathogenic Lateral meningocele syndrome 2015-02-01 no assertion criteria provided literature only
GeneReviews RCV000210463 SCV000282675 pathogenic Lateral meningocele syndrome 2016-05-10 no assertion criteria provided literature only

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