ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg)

dbSNP: rs28933698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517813 SCV000614221 pathogenic not provided 2017-05-25 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000517813 SCV004026485 likely pathogenic not provided 2021-12-07 criteria provided, single submitter clinical testing PM1, PP3, PP4, PM5, PM2_SUP
OMIM RCV000009804 SCV000030025 pathogenic Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2002-07-23 no assertion criteria provided literature only

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