ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect - CureCADASIL RCV000999635 SCV001156353 not provided Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 11-20-2015 by Lab or GTR ID 279559. GenomeConnect-CureCADASIL assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

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