Submissions for variant NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val)

gnomAD frequency: 0.69087  dbSNP: rs1044009

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249070	SCV000304275	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000249070	SCV000341666	benign	not specified	2016-05-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000278901	SCV000410938	benign	Cerebral arteriopathy, autosomal dominant, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001521142	SCV001158967	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV001521142	SCV001730417	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001521142	SCV001893991	benign	not provided	2021-04-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31288479, 24086431, 28867359, 22153900, 30993645)
Genome-Nilou Lab	RCV000278901	SCV002026877	benign	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001785538	SCV002026878	benign	Lateral meningocele syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000249070	SCV001743891	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000249070	SCV001808597	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000249070	SCV001967350	benign	not specified		no assertion criteria provided	clinical testing