ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) (rs137852641)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516507 SCV000614337 pathogenic not provided 2019-03-22 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.
OMIM RCV000009805 SCV000030026 pathogenic Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 2001-09-01 no assertion criteria provided literature only
GenomeConnect - CureCADASIL RCV000009805 SCV001156350 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 12-23-2014 by Lab or GTR ID 1012. 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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