ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) (rs28933697)

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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 RCV000517955 SCV000614313 pathogenic not provided 2017-11-07 criteria provided, single submitter clinical testing
OMIM RCV000009801 SCV000030022 pathogenic Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 2000-03-01 no assertion criteria provided literature only

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