ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)

dbSNP: rs796065045
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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 School of Medicine RCV000190331 SCV000266560 pathogenic Lateral meningocele syndrome criteria provided, single submitter research
OMIM RCV000190331 SCV000243863 pathogenic Lateral meningocele syndrome 2015-02-01 no assertion criteria provided literature only
GeneReviews RCV000190331 SCV000282672 not provided Lateral meningocele syndrome no assertion provided literature only

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