ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) (rs201620755)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207430 SCV000259136 likely benign Anophthalmia - microphthalmia 2013-01-01 criteria provided, single submitter clinical testing
Invitae RCV000540543 SCV000659402 likely benign not provided 2018-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619212 SCV000739406 uncertain significance Cardiovascular phenotype 2017-12-14 criteria provided, single submitter clinical testing Insufficient or conflicting evidence

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