ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg) (rs28933698)

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Total submissions: 2
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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
OMIM RCV000009804 SCV000030025 pathogenic Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 2002-07-23 no assertion criteria provided literature only

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