ClinVar Miner

Submissions for variant NM_004557.4(NOTCH4):c.2443T>G (p.Cys815Gly)

gnomAD frequency: 0.00397  dbSNP: rs150079294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207397 SCV000259132 likely benign Anophthalmia-microphthalmia syndrome 2013-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000886825 SCV001030352 benign not provided 2018-06-08 criteria provided, single submitter clinical testing

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