ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys) (rs1555727942)

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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 RCV000517037 SCV000614269 pathogenic not provided 2018-09-30 criteria provided, single submitter clinical testing The variant disrupts a cysteine residue in an EGF-like repeat domain, which are important for the structure of this protein. Therefore it is expected to severely affect the function of the protein. Found in at least one symptomatic patient, and not found in general population data. Predicted to have a damaging effect on the protein.
GeneReviews RCV000845265 SCV000987227 pathogenic Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 2019-02-19 no assertion criteria provided literature only

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