ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp) (rs200881673)

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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 RCV000711001 SCV000841317 likely pathogenic not provided 2018-04-13 criteria provided, single submitter clinical testing
GenomeConnect - CureCADASIL RCV000999641 SCV001156361 not provided Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 04-13-2018 by Lab or GTR ID 500110. 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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