ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.5678G>A (p.Arg1893Gln)

gnomAD frequency: 0.00007  dbSNP: rs372834264
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000261562 SCV000410952 benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2018-01-12 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 RCV001660677 SCV001879628 benign not specified 2020-11-16 criteria provided, single submitter clinical testing
Invitae RCV002057484 SCV002446861 likely benign not provided 2022-12-13 criteria provided, single submitter clinical testing

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