ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) (rs137852642)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516340 SCV000614294 pathogenic not provided 2017-10-17 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415016 SCV000493059 likely pathogenic Recurrent subcortical infarcts 2013-11-28 criteria provided, single submitter clinical testing
GeneReviews RCV000009806 SCV000987225 pathogenic Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 2019-02-19 no assertion criteria provided literature only
OMIM RCV000009806 SCV000030027 pathogenic Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 2009-08-01 no assertion criteria provided literature only

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