ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1531T>G (p.Cys511Gly)

dbSNP: rs2046897246
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196563 SCV001367171 pathogenic Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2020-02-12 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PM1_Strong,PM2,PM5,PP2,PP3,PP4.

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