ClinVar Miner

Submissions for variant NM_004557.4(NOTCH4):c.4855C>A (p.Leu1619Met)

dbSNP: rs755664291
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital RCV002640755 SCV002822849 uncertain significance Cerebral arteriovenous malformation 2023-01-19 criteria provided, single submitter clinical testing

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