ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=) (rs114457076)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000331559 SCV000411013 likely benign Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000870738 SCV001012274 benign not provided 2020-11-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287531 SCV001474230 likely benign none provided 2019-11-30 criteria provided, single submitter clinical testing

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