ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter) (rs869312910)

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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 RCV000210475 SCV000266558 pathogenic Lehman syndrome criteria provided, single submitter research
GeneReviews RCV000210475 SCV000282677 pathogenic Lehman syndrome 2016-05-10 no assertion criteria provided literature only
OMIM RCV000210475 SCV000243861 pathogenic Lehman syndrome 2015-02-01 no assertion criteria provided literature only

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