Submissions for variant NM_000435.3(NOTCH3):c.1192+15A>G

gnomAD frequency: 0.87325  dbSNP: rs10423702

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245601	SCV000304240	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000407572	SCV000411006	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001514210	SCV001157454	benign	not provided	2021-01-14	criteria provided, single submitter	clinical testing
Invitae	RCV001514210	SCV001722000	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001514210	SCV001838735	benign	not provided	2019-05-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19006080)
Genome-Nilou Lab	RCV000407572	SCV002026912	benign	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001785528	SCV002026913	benign	Lateral meningocele syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000245601	SCV001742922	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000245601	SCV001806947	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000245601	SCV001969533	benign	not specified		no assertion criteria provided	clinical testing