ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.967T>A (p.Cys323Ser)

dbSNP: rs2145439777
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531301 SCV001746331 pathogenic not provided 2023-06-01 criteria provided, single submitter clinical testing NOTCH3: PM1:Strong, PM2, PP3, PP4, PS3:Supporting, PS4:Supporting
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV001374645 SCV001571564 likely pathogenic Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 2020-07-20 no assertion criteria provided clinical testing

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