ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.4163C>T (p.Pro1388Leu)

dbSNP: rs1405393607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763368 SCV001990783 uncertain significance not provided 2019-04-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Fulgent Genetics, Fulgent Genetics RCV002477950 SCV002783064 uncertain significance Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2 2021-12-07 criteria provided, single submitter clinical testing

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