ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) (rs114887570)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000247138 SCV000304272 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268960 SCV000410946 benign Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000247138 SCV000614320 benign not specified 2017-06-14 criteria provided, single submitter clinical testing
Invitae RCV000870676 SCV001012201 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000247138 SCV001159630 benign not specified 2019-01-09 criteria provided, single submitter clinical testing

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