ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter) (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 RCV000190331 SCV000266560 pathogenic Lehman syndrome criteria provided, single submitter research
GeneReviews RCV000190331 SCV000282672 pathogenic Lehman syndrome 2016-05-10 no assertion criteria provided literature only
OMIM RCV000190331 SCV000243863 pathogenic Lehman syndrome 2015-02-01 no assertion criteria provided literature only

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